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Items: 1 to 20 of 557

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885134copy number variation1nstd209human GRCh38 chr1: 143,707,729-148,368,205 , GRCh37.p13 chr1|NW_003871055.3: 523,142-5,183,618 , TRN-GTT22-1, 183 more genes
    nsv5881371copy number variation1nstd209human GRCh38 chr1: 145,648,753-147,971,330 , GRCh37.p13 chr1|NW_003871055.3: 2,464,166-4,786,743 , RNVU1-6, 72 more genes
    nsv5673398copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,507,647-145,555,822 , GRCh38.p12 chr1: 145,879,258-145,927,446 ITGA10, PEX11B, 5 more genes
    nsv5612154insertion1nstd207human GRCh38 chr1: 145,909,621-145,909,621 , GRCh37.p13 chr1|NW_003871055.3: 2,725,034-2,725,034 , GRCh37.p13 chr1: 145,525,460-145,525,460 PEX11B, ITGA10
    nsv5608044insertion1nstd207human GRCh38 chr1: 145,909,622-145,909,622 , GRCh37.p13 chr1|NW_003871055.3: 2,725,035-2,725,035 , GRCh37.p13 chr1: 145,525,459-145,525,459 ITGA10, PEX11B
    nsv5564405copy number variation4nstd102humanPathogenic, Uncertain significance GRCh37 chr1: 145,414,782-145,610,584 , GRCh38.p12 chr1: 145,824,529-146,020,231 MIR6736, POLR3GL, 15 more genes
    nsv5425631copy number variation1nstd206human GRCh38 chr1: 145,563,293-146,185,587 , GRCh37.p13 chr1|NW_003871055.3: 2,378,706-3,001,000 , POLR3C, 29 more genes
    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
    nsv5201603copy number variation1nstd204human GRCh38.p13 chr1: 145,564,501-146,056,900 , GRCh37.p13 chr1|NW_003871055.3: 2,379,914-2,872,313 , GRCh37.p13 chr1: 145,382,661-145,833,118 , LINC01719, 27 more genes
    nsv5200482copy number variation1nstd204human GRCh38.p13 chr1: 145,916,401-145,931,100 , GRCh37.p13 chr1|NW_003871055.3: 2,731,814-2,746,513 , GRCh37.p13 chr1: 145,503,993-145,518,688 GNRHR2, PEX11B, 2 more genes
    nsv5200304copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,500,972-147,851,297 , GRCh38.p12 chr1: 145,430,980-148,371,305 RN7SL261P, LOC105371235, 103 more genes
    nsv5200303copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,818,702-149,378,266 , GRCh38.p12 chr7: 58,093,723-62,429,627 , GRCh38.p12 chr1: 144,536,526-148,549,211 , LOC105371254, 151 more genes
    nsv4768311copy number variation1nstd102humanUncertain significance GRCh37 chr1: 146,500,000-149,500,001 , GRCh38.p12 chr1: 143,511,409-149,082,254 , LOC105371222, 206 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4767143inversion1nstd199human GRCh37 chr1: 120,531,873-145,289,039 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
    nsv4766918inversion1nstd199human GRCh37 chr1: 120,551,446-145,272,979 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
    nsv4764905inversion1nstd199human GRCh37 chr1: 120,630,576-145,080,160 , GRCh38.p12 chr1: 120,852,223-149,601,750 , BCL9, 266 more genes
    nsv4763501inversion1nstd199human GRCh37 chr1: 120,697,151-145,118,354 , GRCh38.p12 chr1: 120,154,584-149,528,945 , BCL9, 280 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4760093inversion1nstd199human GRCh37 chr1: 120,619,264-145,202,139 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
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