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Items: 1 to 20 of 186

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099215copy number variation1nstd231human GRCh38.p12 chr1: 84,991,383-97,594,649 , GRCh37 chr1: 85,457,066-98,060,205 ABCA4, BRDT, 220 more genes
    nsv7052082inversion1nstd229human GRCh38 chr1: 89,196,206-89,404,308 , GRCh37.p13 chr1: 89,661,889-89,869,867 GBP4, CAPNS1P1, 5 more genes
    nsv7051476inversion1nstd229human GRCh38 chr1: 87,647,529-89,769,769 , GRCh37.p13 chr1: 88,113,212-90,235,328 RBMXL1, PTGES3P1, 35 more genes
    nsv7045277inversion1nstd229human GRCh38 chr1: 89,219,136-91,269,986 , GRCh37.p13 chr1: 89,684,819-91,735,543 LOC105378847, CAPNS1P1, 33 more genes
    nsv7042360inversion1nstd229human GRCh38 chr1: 89,189,894-89,972,465 , GRCh37.p13 chr1: 89,655,577-90,438,024 LRRC8B, LRRC8C-DT, 16 more genes
    nsv7038668inversion1nstd229human GRCh38 chr1: 88,971,917-89,507,849 , GRCh37.p13 chr1: 89,437,600-89,973,408 LOC107985076, LOC105378842, 17 more genes
    nsv6656769copy number variation1nstd229human GRCh38 chr1: 89,348,227-89,367,659 , GRCh37.p13 chr1: 89,813,910-89,833,218 GBP6
    nsv6656537copy number variation1nstd229human GRCh38 chr1: 89,238,756-89,384,832 , GRCh37.p13 chr1: 89,704,439-89,850,391 GBP5, GBP6, 2 more genes
    nsv6655971copy number variation1nstd229human GRCh38 chr1: 89,361,450-89,597,492 , GRCh37.p13 chr1: 89,827,009-90,063,051 LOC105378844, CAPNS1P1, 3 more genes
    nsv6626480copy number variation1nstd224human GRCh37 chr1: 89,587,610-90,005,132 , GRCh38.p12 chr1: 89,121,927-89,539,573 GBP5, LOC100421401, 12 more genes
    nsv6542421inversion1nstd223human GRCh38 chr1: 85,951,963-92,104,665 , GRCh37.p13 chr1: 86,417,646-92,570,222 LOC105378844, LINC01773, 104 more genes
    nsv6330482copy number variation1nstd223human GRCh38 chr1: 89,361,397-89,362,556 , GRCh37.p13 chr1: 89,826,956-89,828,115 GBP6
    nsv6313574copy number variation1nstd102humanPathogenic GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400 RNA5SP51, ADGRL4, 315 more genes
    nsv6158774copy number variation1nstd214human GRCh38 chr1: 89,376,942-89,376,992 , GRCh37.p13 chr1: 89,842,501-89,842,551 GBP6
    nsv6134255copy number variation1nstd213human GRCh37 chr1: 89,570,000-90,560,001 , GRCh38.p12 chr1: 89,104,317-90,094,443 GBP5, GBP1P1, 24 more genes
    nsv5423223copy number variation1nstd206human GRCh38 chr1: 89,283,835-89,856,917 , GRCh37.p13 chr1: 89,749,518-90,322,476 , LOC100421401, 13 more genes
    nsv5361464translocation1nstd200human GRCh38 chr1: 89,377,024-89,377,024 , GRCh38 chr1: 89,376,927-89,376,927 , GRCh37.p13 chr1: 89,842,486-89,842,486 , GRCh37.p13 chr1: 89,842,583-89,842,583 GBP6
    nsv5035344inversion1nstd200human GRCh38 chr1: 88,971,917-89,507,849 , GRCh37.p13 chr1: 89,437,600-89,973,408 , KYAT3, 18 more genes
    nsv5034251inversion1nstd200human GRCh38 chr1: 89,189,893-89,972,465 , GRCh37.p13 chr1: 89,655,576-90,438,024 , LOC729930, 18 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
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