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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv7044111inversion1nstd229human GRCh38 chr1: 212,989,436-212,990,867 , GRCh37.p13 chr1: 213,162,778-213,164,209 VASH2, ANGEL2
    nsv7039892inversion1nstd229human GRCh38 chr1: 212,990,293-212,991,505 , GRCh37.p13 chr1: 213,163,635-213,164,847 VASH2, ANGEL2
    nsv6671957copy number variation1nstd229human GRCh38 chr1: 213,010,342-213,024,101 , GRCh37.p13 chr1: 213,183,684-213,197,443 ANGEL2
    nsv6671672copy number variation1nstd229human GRCh38 chr1: 212,832,753-213,257,197 , GRCh37.p13 chr1: 213,006,095-213,430,540 RPS28P2, RPS6KC1, 5 more genes
    nsv6661446copy number variation1nstd229human GRCh38 chr1: 213,016,246-213,025,121 , GRCh37.p13 chr1: 213,189,588-213,198,463 ANGEL2
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6625961copy number variation1nstd224human GRCh37 chr1: 213,073,013-213,196,940 , GRCh38.p12 chr1: 212,899,671-213,023,598 VASH2, ANGEL2, 1 more genes
    nsv6544567inversion1nstd223human GRCh38 chr1: 212,998,141-212,998,622 , GRCh37.p13 chr1: 213,171,483-213,171,964 ANGEL2
    nsv6335289copy number variation1nstd223human GRCh38 chr1: 213,010,342-213,024,151 , GRCh37.p13 chr1: 213,183,684-213,197,493 ANGEL2
    nsv6329396copy number variation1nstd223human GRCh38 chr1: 212,832,753-213,257,197 , GRCh37.p13 chr1: 213,006,095-213,430,540 FLVCR1, SPATA45, 5 more genes
    nsv6291634copy number variation1nstd102humanUncertain significance GRCh38 chr1: 212,337,801-213,362,035 , GRCh37.p13 chr1: 212,511,143-213,535,378 ANGEL2, ATF3, 21 more genes
    nsv6290417copy number variation1nstd102humanUncertain significance GRCh37 chr1: 212,846,338-213,356,017 , GRCh38.p12 chr1: 212,672,996-213,182,674 NSL1, RPS6KC1, 9 more genes
    nsv6258128mobile element insertion1nstd215human GRCh38 chr1: 213,014,276-213,014,276 , GRCh37.p13 chr1: 213,187,618-213,187,618 ANGEL2
    nsv6133849copy number variation1nstd213human GRCh37 chr1: 213,040,000-213,340,001 , GRCh38.p12 chr1: 212,866,658-213,166,658 RPS6KC1, FLVCR1, 2 more genes
    nsv6133753copy number variation1nstd213human GRCh37 chr1: 210,410,000-214,880,001 , GRCh38.p12 chr1: 210,236,655-214,706,658 NEK2, PPP2R5A, 73 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    nsv5719124mobile element insertion2nstd211human GRCh38 chr1: 213,011,897-213,011,897 , GRCh37.p13 chr1: 213,185,239-213,185,239 ANGEL2
    nsv5560883mobile element insertion1nstd206human GRCh38 chr1: 213,011,897-213,011,948 , GRCh37.p13 chr1: 213,185,239-213,185,290 ANGEL2
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