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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881720copy number variation1nstd209human GRCh38 chr1: 40,245,445-40,246,295 , GRCh37.p13 chr1: 40,711,117-40,711,967 TMCO2
    nsv5686781mobile element insertion1nstd211human GRCh38 chr1: 40,247,696-40,247,696 , GRCh37.p13 chr1: 40,713,368-40,713,368 TMCO2
    nsv5416975copy number variation1nstd206human GRCh38 chr1: 40,246,773-40,247,098 , GRCh37.p13 chr1: 40,712,445-40,712,770 TMCO2
    nsv5397602mobile element insertion1nstd206human GRCh38 chr1: 40,247,696-40,247,705 , GRCh37.p13 chr1: 40,713,368-40,713,377 TMCO2
    nsv5286295copy number variation1nstd204human GRCh38.p13 chr1: 40,245,466-40,246,265 , GRCh37.p13 chr1: 40,711,138-40,711,937 TMCO2
    nsv5215444copy number variation1nstd204human GRCh38.p13 chr1: 40,245,501-40,246,300 , GRCh37.p13 chr1: 40,711,173-40,711,972 TMCO2
    nsv4773199copy number variation1nstd200human GRCh37 chr1: 40,711,154-40,711,938 , GRCh38.p12 chr1: 40,245,482-40,246,266 TMCO2
    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
    nsv4454698copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,657,779-40,758,399 , GRCh38.p12 chr1: 40,192,107-40,292,727 TMCO2, RLF, 1 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4049466copy number variation1nstd166human GRCh37.p13 chr1: 40,712,445-40,712,766 , GRCh38.p12 chr1: 40,246,773-40,247,094 TMCO2
    nsv4038316copy number variation1nstd166human GRCh37.p13 chr1: 40,712,353-40,713,122 , GRCh38.p12 chr1: 40,246,681-40,247,450 TMCO2
    nsv3905829copy number variation1nstd102humanPathogenic GRCh38 chr1: 39,360,747-40,900,817 , GRCh37 chr1: 39,826,419-41,366,489 , NCBI36 chr1: 39,599,006-41,139,076 RLF, LOC105378671, 53 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3893621copy number variation1nstd102humanPathogenic GRCh38 chr1: 38,108,665-42,327,551 , NCBI36 chr1: 38,346,924-42,565,809 , GRCh37 chr1: 38,574,337-42,793,222 NT5C1A, FOXO6, 98 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
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