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Items: 1 to 20 of 146

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099257copy number variation1nstd231human GRCh38.p12 chr1: 203,396,218-207,103,915 , GRCh37 chr1: 203,365,346-207,277,260 ATP2B4, AVPR1B, 116 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7045682inversion1nstd229human GRCh38 chr1: 206,575,553-207,432,111 , GRCh37.p13 chr1: 206,940,870-207,605,456 CD55, RPS14P1, 26 more genes
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 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
    nsv6554773inversion1nstd223human GRCh38 chr1: 204,500,842-208,290,127 , GRCh37.p13 chr1: 204,469,970-208,463,472 RNA5SP75, LOC105372869, 108 more genes
    nsv6320537copy number variation1nstd223human GRCh38 chr1: 206,924,352-206,927,289 , GRCh37.p13 chr1: 207,097,697-207,100,634 PIGR
    nsv6310745copy number variation2nstd102humanUncertain significance GRCh37 chr1: 206,941,981-208,391,267 , GRCh38.p12 chr1: 206,768,636-208,217,922 PFKFB2, LOC105372878, 39 more genes
    nsv6133970copy number variation1nstd213human GRCh37 chr1: 206,910,000-207,570,001 , GRCh38.p12 chr1: 206,736,655-207,396,656 C4BPA, C4BPB, 19 more genes
    nsv6133847copy number variation1nstd213human GRCh37 chr1: 206,920,000-207,940,001 , GRCh38.p12 chr1: 206,746,655-207,766,656 CR1, IL10, 29 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
    nsv5684343mobile element insertion2nstd211human GRCh38 chr1: 206,927,025-206,927,025 , GRCh37.p13 chr1: 207,100,370-207,100,370 PIGR
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4904288copy number variation1nstd200human GRCh38 chr1: 206,937,002-206,951,677 , GRCh37.p13 chr1: 207,110,347-207,125,022 PIGR
    nsv4781410copy number variation1nstd200human GRCh37 chr1: 207,110,347-207,125,022 , GRCh38.p12 chr1: 206,937,002-206,951,677 PIGR
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
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