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Items: 1 to 20 of 152

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099199copy number variation1nstd231human GRCh38.p12 chr1: 47,175,123-48,269,119 , GRCh37 chr1: 47,640,795-48,734,791 FOXE3, FOXD2, 17 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv7046201inversion1nstd229human GRCh38 chr1: 45,964,231-47,257,863 , GRCh37.p13 chr1: 46,429,903-47,723,535 TUBAP9, MKNK1-AS1, 45 more genes
    nsv6326686copy number variation1nstd223human GRCh38 chr1: 47,020,004-47,190,521 , GRCh37.p13 chr1: 47,485,676-47,656,193 PDZK1IP1, CYP4Z1, 6 more genes
    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
    nsv6133997copy number variation1nstd213human GRCh37 chr1: 46,960,000-47,650,001 , GRCh38.p12 chr1: 46,494,328-47,184,329 CYP4A11, CYP4B1, 28 more genes
    nsv6133537copy number variation1nstd213human GRCh37 chr1: 47,596,025-47,697,947 , GRCh38.p12 chr1: 47,130,353-47,232,275 TAL1, PDZK1IP1, 4 more genes
    nsv6056838insertion1nstd212human GRCh38 chr1: 47,184,459-47,184,459 , GRCh37.p13 chr1: 47,650,131-47,650,131 PDZK1IP1
    nsv6043401insertion1nstd212human GRCh38 chr1: 47,184,654-47,184,654 , GRCh37.p13 chr1: 47,650,326-47,650,326 PDZK1IP1
    nsv5984591copy number variation1nstd212human GRCh38 chr1: 47,184,279-47,184,672 , GRCh37.p13 chr1: 47,649,951-47,650,344 PDZK1IP1
    nsv5868513copy number variation1nstd209human GRCh38 chr1: 47,174,932-47,194,142 , GRCh37.p13 chr1: 47,640,604-47,659,814 PDZK1IP1, LINC00853, 1 more genes
    nsv5620356insertion1nstd207human GRCh38 chr1: 47,184,459-47,184,459 , GRCh37.p13 chr1: 47,650,131-47,650,131 PDZK1IP1
    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
    nsv4674547copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,272,184-52,505,405 , GRCh38.p12 chr1: 46,806,512-52,039,733 RAB3B, RN7SL290P, 90 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
    nsv3960213insertion1nstd168human GRCh38 chr1: 47,180,617-47,210,228 , GRCh37.p13 chr1: 47,646,289-47,675,900 LINC00853, PDZK1IP1
    nsv3935480insertion1nstd167human GRCh37 chr1: 47,650,131-47,650,131 , GRCh38.p12 chr1: 47,184,459-47,184,459 PDZK1IP1
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