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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4594521copy number variation1nstd183human GRCh37 chr1: 43,910,246-44,064,046 , GRCh38.p12 chr1: 43,444,575-43,598,375 SZT2, MIR6735, 3 more genes
    nsv4453812copy number variation1nstd102humanUncertain significance GRCh37 chr1: 43,787,578-44,221,212 , GRCh38.p12 chr1: 43,321,907-43,755,541 CDC20, MED8, 16 more genes
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 more genes
    nsv4449774copy number variation1nstd102humanUncertain significance GRCh38 chr1: 43,446,935-43,450,500 , GRCh37 chr1: 43,912,606-43,916,171 SZT2-AS1, MIR6735, 2 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
    nsv3900473copy number variation1nstd102humanPathogenic GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363 KDM4A, RN7SL326P, 102 more genes
    nsv3892747copy number variation1nstd102humanPathogenic NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040 ERMAP, LOC100419796, 116 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
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3870704copy number variation1nstd102humanPathogenic GRCh37 chr1: 42,914,303-45,001,279 , GRCh38.p12 chr1: 42,448,632-44,535,607 TMEM269-DT, DPH2, 74 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv3136033copy number variation1nstd151human GRCh37 chr1: 43,905,273-43,916,987 , GRCh38.p12 chr1: 43,439,602-43,451,316 SZT2-AS1, SZT2, 2 more genes
    nsv3121049copy number variation1nstd151human GRCh37 chr1: 43,908,487-43,916,156 , GRCh38.p12 chr1: 43,442,816-43,450,485 MIR6735, SZT2, 2 more genes
    nsv3119303copy number variation1nstd151human GRCh37 chr1: 43,766,740-43,917,220 , GRCh38.p12 chr1: 43,301,069-43,451,549 MED8-AS1, MIR6734, 11 more genes
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