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Items: 1 to 20 of 197

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7044192inversion1nstd229human GRCh38 chr2: 57,467,952-62,408,360 , GRCh37.p13 chr2: 57,695,087-62,635,495 RNA5SP94, PUS10, 62 more genes
    nsv6673064copy number variation1nstd229human GRCh38 chr2: 61,378,101-61,752,800 , GRCh37.p13 chr2: 61,605,236-61,979,935 SNORA70B, LOC107985767, 7 more genes
    nsv6672148copy number variation1nstd229human GRCh38 chr2: 61,408,320-61,416,227 , GRCh37.p13 chr2: 61,635,455-61,643,362 USP34, SNORA70B
    nsv6669130copy number variation1nstd229human GRCh38 chr2: 61,348,417-61,796,317 , GRCh37.p13 chr2: 61,575,552-62,023,452 RPS29P10, USP34-DT, 8 more genes
    nsv6668600copy number variation1nstd229human GRCh38 chr2: 61,277,285-61,532,079 , GRCh37.p13 chr2: 61,504,420-61,759,214 SNORA70B, USP34, 2 more genes
    nsv6660141copy number variation1nstd229human GRCh38 chr2: 61,277,905-61,516,604 , GRCh37.p13 chr2: 61,505,040-61,743,739 USP34, SNORA70B, 2 more genes
    nsv6636439copy number variation1nstd102humanPathogenic GRCh37 chr2: 61,379,352-61,928,100 , GRCh38.p12 chr2: 61,152,217-61,700,965 XPO1, C2orf74, 8 more genes
    nsv6636424copy number variation1nstd102humanPathogenic GRCh37 chr2: 61,215,497-61,714,418 , GRCh38.p12 chr2: 60,988,362-61,487,283 PUS10, LOC105374759, 11 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6343779copy number variation1nstd223human GRCh38 chr2: 61,277,905-61,516,601 , GRCh37.p13 chr2: 61,505,040-61,743,736 XPO1, SNORA70B, 2 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6311518copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,258,534-62,063,264 , GRCh38.p12 chr2: 61,031,399-61,836,129 XPO1, AHSA2P, 17 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5212850copy number variation1nstd204human GRCh38.p13 chr2: 61,414,101-61,980,100 , GRCh37.p13 chr2: 61,641,236-62,207,235 USP34-DT, LOC647077, 14 more genes
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4908731copy number variation1nstd200human GRCh38 chr2: 61,020,916-61,420,605 , GRCh37.p13 chr2: 61,248,051-61,647,740 PEX13, SANBR, 7 more genes
    nsv4901476copy number variation1nstd200human GRCh38 chr2: 61,408,320-61,416,229 , GRCh37.p13 chr2: 61,635,455-61,643,364 SNORA70B, USP34
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