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Items: 1 to 20 of 172

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5827915copy number variation1nstd209human GRCh38 chr1: 110,883,573-110,884,672 , GRCh37.p13 chr1: 111,426,195-111,427,294 CD53, LRIF1
    nsv5827601copy number variation1nstd209human GRCh38 chr1: 110,885,828-110,889,077 , GRCh37.p13 chr1: 111,428,450-111,431,699 CD53, LRIF1
    nsv5726300mobile element insertion1nstd211human GRCh38 chr1: 110,872,741-110,872,741 , GRCh37.p13 chr1: 111,415,363-111,415,363 CD53
    nsv5562023mobile element insertion1nstd206human GRCh38 chr1: 110,872,758-110,872,792 , GRCh37.p13 chr1: 111,415,380-111,415,414 CD53
    nsv5418468copy number variation1nstd206human GRCh38 chr1: 110,885,795-110,889,513 , GRCh37.p13 chr1: 111,428,417-111,432,135 LRIF1, CD53
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5213793copy number variation1nstd204human GRCh38.p13 chr1: 110,881,601-110,884,800 , GRCh37.p13 chr1: 111,424,223-111,427,422 CD53, LRIF1
    nsv5076602mobile element insertion1nstd203human GRCh38 chr1: 110,876,550-110,876,564 , GRCh37.p13 chr1: 111,419,172-111,419,186 LRIF1, CD53
    nsv4890756copy number variation1nstd200human GRCh38 chr1: 110,882,029-110,885,503 , GRCh37.p13 chr1: 111,424,651-111,428,125 CD53, LRIF1
    nsv4781118copy number variation1nstd200human GRCh37 chr1: 111,428,382-111,432,167 , GRCh38.p12 chr1: 110,885,760-110,889,545 CD53, LRIF1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4454547copy number variation1nstd102humanPathogenic GRCh37 chr1: 110,994,179-112,360,446 , GRCh38.p12 chr1: 110,451,557-111,817,824 CCNT2P1, PROK1, 44 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4070746copy number variation1nstd166human GRCh37.p13 chr1: 111,425,236-111,427,409 , GRCh38.p12 chr1: 110,882,614-110,884,787 CD53, LRIF1
    nsv3920130copy number variation1nstd102humanPathogenic NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637 LOC105378898, LOC105378901, 166 more genes
    nsv3901806copy number variation1nstd102humanPathogenic NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248 LOC126987, VAV3-AS1, 151 more genes
    nsv3901500copy number variation1nstd102humanPathogenic NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650 CHIAP1, LOC105378888, 171 more genes
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