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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5336228translocation1nstd200human GRCh37 chr1: 111,153,612-111,153,612 , GRCh37 chr1: 111,156,232-111,156,232 , GRCh38.p12 chr1: 110,610,990-110,610,990 , GRCh38.p12 chr1: 110,613,610-110,613,610 KCNA2
    nsv5329264translocation1nstd204human GRCh38.p13 chr1: 110,613,610-110,613,610 , GRCh38.p13 chr1: 110,610,989-110,610,989 , GRCh37.p13 chr1: 111,156,232-111,156,232 , GRCh37.p13 chr1: 111,153,611-111,153,611 KCNA2
    nsv5212666copy number variation1nstd204human GRCh38.p13 chr1: 110,610,954-110,613,656 , GRCh37.p13 chr1: 111,153,576-111,156,278 KCNA2
    nsv5211145copy number variation1nstd204human GRCh38.p13 chr1: 110,611,001-110,613,600 , GRCh37.p13 chr1: 111,153,623-111,156,222 KCNA2
    nsv4894409copy number variation1nstd200human GRCh38 chr1: 110,569,134-110,720,529 , GRCh37.p13 chr1: 111,111,756-111,263,151 KCNA2, KCNA3, 1 more genes
    nsv4890748copy number variation1nstd200human GRCh38 chr1: 110,623,923-110,635,565 , GRCh37.p13 chr1: 111,166,545-111,178,187 KCNA2
    nsv4890747copy number variation1nstd200human GRCh38 chr1: 110,610,989-110,613,610 , GRCh37.p13 chr1: 111,153,611-111,156,232 KCNA2
    nsv4781116copy number variation1nstd200human GRCh37 chr1: 111,111,756-111,263,151 , GRCh38.p12 chr1: 110,569,134-110,720,529 KCNA3, LOC107985174, 1 more genes
    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
    nsv4682851copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,136,495-111,147,424 , GRCh38.p12 chr1: 110,593,873-110,604,802 KCNA2
    nsv4579089copy number variation1nstd183human GRCh37 chr1: 111,019,774-111,144,955 , GRCh38.p12 chr1: 110,477,152-110,602,333 KCNA10, CYMP, 2 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
    nsv4453642copy number variation1nstd102humannot provided GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875 PSMA5, GSTM1, 79 more genes
    nsv4436700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583 ALX3, AMPD2, 89 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
    nsv4070537copy number variation1nstd166human GRCh37.p13 chr1: 111,153,916-111,153,987 , GRCh38.p12 chr1: 110,611,294-110,611,365 KCNA2
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