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Items: 1 to 20 of 146

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099223copy number variation1nstd231human GRCh38.p12 chr1: 108,551,579-110,710,631 , GRCh37 chr1: 109,094,201-111,253,253 ALX3, AMPD2, 74 more genes
    nsv7095739copy number variation1nstd102humanPathogenic GRCh37 chr1: 108,679,275-111,674,176 , GRCh38.p12 chr1: 108,136,653-111,131,554 RPL7L1P21, GSTM4, 90 more genes
    nsv6636999copy number variation1nstd102humanUncertain significance GRCh37 chr1: 110,662,135-111,401,322 , GRCh38.p12 chr1: 110,119,513-110,858,700 LOC105378898, CYMP, 19 more genes
    nsv6635713copy number variation1nstd227human GRCh38.p12 chr1: 110,407,655-110,407,840 , GRCh37 chr1: 110,950,277-110,950,462 LAMTOR5, LAMTOR5-AS1
    nsv6539399inversion1nstd223human GRCh38 chr1: 110,404,743-110,405,263 , GRCh37.p13 chr1: 110,947,365-110,947,885 LAMTOR5
    nsv6331116copy number variation1nstd223human GRCh38 chr1: 110,399,122-110,400,779 , GRCh37.p13 chr1: 110,941,744-110,943,401 LAMTOR5
    nsv6313675copy number variation1nstd102humanPathogenic GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309 LINC01307, FTLP17, 320 more genes
    nsv6310577copy number variation1nstd102humanPathogenic GRCh37 chr1: 110,603,355-111,147,404 , GRCh38.p12 chr1: 110,060,733-110,604,782 LOC105378899, RBM15-AS1, 17 more genes
    nsv6133729copy number variation1nstd213human GRCh37 chr1: 110,680,000-111,480,001 , GRCh38.p12 chr1: 110,137,378-110,937,379 KCNA2, SLC16A4, 21 more genes
    nsv6133414copy number variation1nstd213human GRCh37 chr1: 110,813,423-110,945,279 , GRCh38.p12 chr1: 110,270,801-110,402,657 KCNC4, SLC16A4, 3 more genes
    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
    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
    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
    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
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