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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099226copy number variation1nstd231human GRCh38.p12 chr1: 115,063,638-119,984,872 , GRCh37 chr1: 115,606,259-120,527,495 ATP1A1, CASQ2, 103 more genes
    nsv6640584copy number variation1nstd229human GRCh38 chr1: 116,757,132-116,771,153 , GRCh37.p13 chr1: 117,299,754-117,313,775 CD2
    nsv6640583copy number variation1nstd229human GRCh38 chr1: 116,749,901-116,930,500 , GRCh37.p13 chr1: 117,292,523-117,473,122 PTGFRN, LOC105378927, 2 more genes
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6329957copy number variation1nstd223human GRCh38 chr1: 116,756,039-116,765,564 , GRCh37.p13 chr1: 117,298,661-117,308,186 CD2
    nsv6318039copy number variation1nstd223human GRCh38 chr1: 116,756,501-116,759,000 , GRCh37.p13 chr1: 117,299,123-117,301,622 CD2
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6218902insertion1nstd214human GRCh38 chr1: 116,759,472-116,759,472 , GRCh37.p13 chr1: 117,302,094-117,302,094 CD2
    nsv6133550copy number variation1nstd213human GRCh37 chr1: 117,260,000-118,670,001 , GRCh38.p12 chr1: 116,717,378-118,127,378 PTGFRN, CD101, 23 more genes
    nsv5827823copy number variation1nstd209human GRCh38 chr1: 116,756,349-116,757,665 , GRCh37.p13 chr1: 117,298,971-117,300,287 CD2
    nsv5419149copy number variation1nstd206human GRCh38 chr1: 116,756,483-116,758,849 , GRCh37.p13 chr1: 117,299,105-117,301,471 CD2
    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
    nsv4894451copy number variation1nstd200human GRCh38 chr1: 116,756,016-116,765,732 , GRCh37.p13 chr1: 117,298,638-117,308,354 CD2
    nsv4773813copy number variation1nstd200human GRCh37 chr1: 117,299,031-117,301,462 , GRCh38.p12 chr1: 116,756,409-116,758,840 CD2
    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
    nsv4411513copy number variation1nstd174human GRCh37 chr1: 117,297,804-117,301,492 , GRCh38.p12 chr1: 116,755,182-116,758,870 CD2
    nsv4369244copy number variation1nstd173human GRCh37 chr1: 116,925,151-118,184,675 , GRCh38.p12 chr1: 116,382,529-117,642,053 TRIM45, FTH1P22, 32 more genes
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