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Items: 1 to 20 of 224

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099226copy number variation1nstd231human GRCh38.p12 chr1: 115,063,638-119,984,872 , GRCh37 chr1: 115,606,259-120,527,495 ATP1A1, CASQ2, 103 more genes
    nsv7095740copy number variation1nstd102humanUncertain significance GRCh37 chr1: 113,456,513-116,311,162 , GRCh38.p12 chr1: 112,913,891-115,768,541 TRIM33, PHTF1, 55 more genes
    nsv7041665inversion1nstd229human GRCh38 chr1: 115,082,360-115,097,398 , GRCh37.p13 chr1: 115,624,981-115,640,019 TSPAN2, LINC01765
    nsv7039033inversion1nstd229human GRCh38 chr1: 113,396,540-116,450,790 , GRCh37.p13 chr1: 113,939,162-116,993,412 ELOCP20, NHLH2, 60 more genes
    nsv6640302copy number variation1nstd229human GRCh38 chr1: 115,082,681-115,083,076 , GRCh37.p13 chr1: 115,625,302-115,625,697 TSPAN2
    nsv6640207copy number variation1nstd229human GRCh38 chr1: 115,089,201-115,114,300 , GRCh37.p13 chr1: 115,631,822-115,656,921 TSPAN2, LINC01765
    nsv6640202copy number variation1nstd229human GRCh38 chr1: 114,931,701-115,078,900 , GRCh37.p13 chr1: 115,474,322-115,621,521 SYCP1, TSPAN2, 1 more genes
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6549207inversion1nstd223human GRCh38 chr1: 115,059,931-115,069,337 , GRCh37.p13 chr1: 115,602,552-115,611,958 TSPAN2
    nsv6537300inversion1nstd223human GRCh38 chr1: 115,059,845-115,066,590 , GRCh37.p13 chr1: 115,602,466-115,609,211 TSPAN2
    nsv6334844copy number variation1nstd223human GRCh38 chr1: 115,049,868-115,050,450 , GRCh37.p13 chr1: 115,592,489-115,593,071 TSPAN2
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6299084copy number variation1nstd186human GRCh37 chr1: 112,230,457-115,692,621 , GRCh38.p12 chr1: 111,687,835-115,150,000 , WNT2B, 77 more genes
    nsv6297377copy number variation1nstd186human GRCh37 chr1: 115,613,629-115,613,694 , GRCh38.p12 chr1: 115,071,008-115,071,073 TSPAN2
    nsv6133548copy number variation1nstd213human GRCh37 chr1: 114,920,000-115,820,001 , GRCh38.p12 chr1: 114,377,378-115,277,380 AMPD1, NRAS, 17 more genes
    nsv6133495copy number variation1nstd213human GRCh37 chr1: 115,390,000-115,920,001 , GRCh38.p12 chr1: 114,847,379-115,377,380 NGF, SYCP1, 7 more genes
    nsv6049894insertion1nstd212human GRCh38 chr1: 115,056,307-115,056,307 , GRCh37.p13 chr1: 115,598,928-115,598,928 TSPAN2
    nsv5726133mobile element insertion1nstd211human GRCh38 chr1: 115,056,317-115,056,317 , GRCh37.p13 chr1: 115,598,938-115,598,938 TSPAN2
    nsv5560519mobile element insertion1nstd206human GRCh38 chr1: 115,056,317-115,056,368 , GRCh37.p13 chr1: 115,598,938-115,598,989 TSPAN2
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
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