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Items: 1 to 20 of 226

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv5611832insertion1nstd207human GRCh38 chr2: 127,105,467-127,105,467 , GRCh37.p13 chr2: 127,863,043-127,863,043 LOC105373605, BIN1
    nsv5608539insertion1nstd207human GRCh38 chr2: 127,105,501-127,105,501 , GRCh37.p13 chr2: 127,863,077-127,863,077 LOC105373605, BIN1
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 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
    nsv5450709copy number variation1nstd206human GRCh38 chr2: 127,078,792-127,078,875 , GRCh37.p13 chr2: 127,836,368-127,836,451 BIN1
    nsv5442658copy number variation1nstd206human GRCh38 chr2: 127,066,603-127,066,664 , GRCh37.p13 chr2: 127,824,179-127,824,240 BIN1
    nsv5350724translocation1nstd200human GRCh38 chr2: 127,078,792-127,078,792 , GRCh38 chr2: 127,078,875-127,078,875 , GRCh37.p13 chr2: 127,836,368-127,836,368 , GRCh37.p13 chr2: 127,836,451-127,836,451 BIN1
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4925928copy number variation1nstd200human GRCh38 chr2: 127,100,504-127,100,582 , GRCh37.p13 chr2: 127,858,080-127,858,158 BIN1
    nsv4925927copy number variation1nstd200human GRCh38 chr2: 127,094,019-127,102,983 , GRCh37.p13 chr2: 127,851,595-127,860,559 BIN1
    nsv4923943copy number variation1nstd200human GRCh38 chr2: 127,082,776-127,279,485 , GRCh37.p13 chr2: 127,840,352-128,037,061 BIN1, ERCC3, 4 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4770768copy number variation1nstd200human GRCh37 chr2: 127,863,992-127,864,359 , GRCh38.p12 chr2: 127,106,416-127,106,783 LOC105373605, BIN1
    nsv4770767copy number variation1nstd200human GRCh37 chr2: 127,851,595-127,860,559 , GRCh38.p12 chr2: 127,094,019-127,102,983 BIN1
    nsv4750633insertion1nstd199human GRCh37 chr2: 127,863,051-127,863,051 , GRCh38.p12 chr2: 127,105,475-127,105,475 BIN1, LOC105373605
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4681842copy number variation1nstd102humanUncertain significance GRCh37 chr2: 127,864,426-127,864,529 , GRCh38.p12 chr2: 127,106,850-127,106,953 BIN1, LOC105373605
    nsv4674710copy number variation1nstd102humanPathogenic GRCh37 chr2: 118,872,395-128,069,813 , GRCh38.p12 chr2: 118,114,819-127,312,237 C2orf76, LOC107985817, 89 more genes
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