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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
    nsv7099196copy number variation1nstd231human GRCh38.p12 chr1: 42,172,633-43,430,191 , GRCh37 chr1: 42,638,304-43,895,862 CDC20, MPL, 43 more genes
    nsv7095530copy number variation1nstd102humanUncertain significance GRCh37 chr1: 43,392,712-43,675,755 , GRCh38.p12 chr1: 42,927,041-43,210,084 EBNA1BP2, RNA5SP46, 7 more genes
    nsv6649692copy number variation1nstd229human GRCh38 chr1: 43,144,401-43,148,300 , GRCh37.p13 chr1: 43,610,072-43,613,971 CFAP144
    nsv6649691copy number variation1nstd229human GRCh38 chr1: 43,143,568-43,159,296 , GRCh37.p13 chr1: 43,609,239-43,624,967 CFAP144
    nsv6649690copy number variation1nstd229human GRCh38 chr1: 43,116,394-43,143,554 , GRCh37.p13 chr1: 43,582,065-43,609,225 CFAP144
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    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
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