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Items: 1 to 20 of 147

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099242copy number variation1nstd231human GRCh38.p12 chr1: 165,818,782-166,364,892 , GRCh37 chr1: 165,788,019-166,334,129 UCK2, FAM78B, 9 more genes
    nsv7057537inversion1nstd229human GRCh38 chr1: 161,493,525-166,518,262 , GRCh37.p13 chr1: 161,463,315-166,487,499 LOC107985451, ALDH9A1, 88 more genes
    nsv7039884inversion1nstd229human GRCh38 chr1: 159,817,036-167,858,499 , GRCh37.p13 chr1: 159,786,826-167,827,737 TRP-AGG2-1, FCGR2C, 228 more genes
    nsv6540250inversion1nstd223human GRCh38 chr1: 163,441,141-169,028,378 , GRCh37.p13 chr1: 163,410,931-168,997,616 LOC107985452, NMNAT1P2, 96 more genes
    nsv6328895copy number variation1nstd223human GRCh38 chr1: 165,798,871-165,817,555 , GRCh37.p13 chr1: 165,768,108-165,786,792 RPL26P12
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    nsv6313604copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,417,296-166,197,042 , GRCh38.p12 chr1: 160,447,506-166,227,805 USF1, TRE-CTC1-3, 161 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133594copy number variation1nstd213human GRCh37 chr1: 163,370,000-166,450,001 , GRCh38.p12 chr1: 163,400,210-166,480,764 PBX1, UCK2, 39 more genes
    nsv6133565copy number variation1nstd213human GRCh37 chr1: 164,310,000-170,640,001 , GRCh38.p12 chr1: 164,340,763-170,670,860 ATP1B1, DPT, 126 more genes
    nsv5875297copy number variation1nstd209human GRCh38 chr1: 165,798,890-165,817,501 , GRCh37.p13 chr1: 165,768,127-165,786,738 RPL26P12
    nsv5872856copy number variation1nstd209human GRCh38 chr1: 165,819,303-165,820,576 , GRCh37.p13 chr1: 165,788,540-165,789,813 RPL26P12
    nsv5828605copy number variation2nstd209human GRCh38 chr1: 165,813,252-165,817,451 , GRCh37.p13 chr1: 165,782,489-165,786,688 RPL26P12
    nsv5432290copy number variation1nstd206human GRCh38 chr1: 165,798,850-165,817,570 , GRCh37.p13 chr1: 165,768,087-165,786,807 RPL26P12
    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
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4765281insertion1nstd199human GRCh37 chr1: 165,789,523-165,789,523 , GRCh38.p12 chr1: 165,820,286-165,820,286 RPL26P12
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 more genes
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