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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv6693847copy number variation1nstd229human GRCh38 chr2: 189,496,725-189,611,798 , GRCh37.p13 chr2: 190,361,451-190,476,524 SLC40A1
    nsv6684241copy number variation1nstd229human GRCh38 chr2: 189,355,716-189,574,435 , GRCh37.p13 chr2: 190,220,442-190,439,161 WDR75, KDM3AP1, 1 more genes
    nsv6637127copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,909,904-209,468,383 , GRCh38.p12 chr2: 189,045,178-208,603,658 LOC100421409, LOC100507443, 310 more genes
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6137714insertion1nstd102humanLikely pathogenic GRCh38 chr2: 189,563,722-189,563,722 , GRCh37 chr2: 190,428,448-190,428,448 SLC40A1
    nsv6137712insertion1nstd102humanLikely pathogenic GRCh38 chr2: 189,563,735-189,563,735 , GRCh37 chr2: 190,428,461-190,428,461 SLC40A1
    nsv6134442copy number variation1nstd213human GRCh37 chr2: 190,270,000-190,610,001 , GRCh38.p12 chr2: 189,405,274-189,745,275 SLC40A1, ASNSD1, 6 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5163830mobile element insertion1nstd203human GRCh38 chr2: 189,576,669-189,576,685 , GRCh37.p13 chr2: 190,441,395-190,441,411 SLC40A1
    nsv4804496copy number variation1nstd200human GRCh37 chr2: 190,439,841-190,501,694 , GRCh38.p12 chr2: 189,575,115-189,636,968 SLC40A1
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 more genes
    nsv4716529copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,345,272-200,212,289 , GRCh38.p12 chr2: 189,480,546-199,347,566 C2orf66, LINC01821, 105 more genes
    nsv4681581copy number variation2nstd102humanPathogenic GRCh37 chr2: 189,839,206-190,445,374 , GRCh38.p12 chr2: 188,974,480-189,580,648 KRT18P19, LOC105373791, 9 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
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