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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673174copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,392,692-43,870,241 , GRCh38.p12 chr1: 42,927,021-43,404,570 TMEM125, RNA5SP46, 19 more genes
    nsv5063917mobile element insertion1nstd203human GRCh38 chr1: 43,154,013-43,154,028 , GRCh37.p13 chr1: 43,619,684-43,619,699 CFAP144
    nsv4906187copy number variation1nstd200human GRCh38 chr1: 43,144,337-43,148,279 , GRCh37.p13 chr1: 43,610,008-43,613,950 CFAP144
    nsv4773279copy number variation1nstd200human GRCh37 chr1: 43,610,008-43,613,950 , GRCh38.p12 chr1: 43,144,337-43,148,279 CFAP144
    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
    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
    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
    nsv4369480copy number variation1nstd173human GRCh37 chr1: 43,580,019-43,616,123 , GRCh38.p12 chr1: 43,114,348-43,150,452 CFAP144
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4047428copy number variation1nstd166human GRCh37.p13 chr1: 43,609,238-43,624,966 , GRCh38.p12 chr1: 43,143,567-43,159,295 CFAP144
    nsv4038236copy number variation1nstd166human GRCh37.p13 chr1: 43,582,065-43,609,225 , GRCh38.p12 chr1: 43,116,394-43,143,554 CFAP144
    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
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