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Items: 1 to 20 of 85

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099185copy number variation1nstd231human GRCh38.p12 chr1: 23,256,354-23,442,990 , GRCh37 chr1: 23,582,847-23,769,483 , GRCh38.p12 chr1|NW_014040926.1: 47,042-212,969 TCEA3, HNRNPR, 4 more genes
    nsv7095949copy number variation1nstd102humanUncertain significance GRCh37 chr1: 19,199,339-24,690,861 , GRCh38.p12 chr1: 18,872,845-24,364,371 RPL29P6, NBPF3, 156 more genes
    nsv7044760inversion1nstd229human GRCh38 chr1: 22,155,852-26,348,296 , GRCh37.p13 chr1: 22,482,345-26,674,787 MIR4684, PDIK1L, 120 more genes
    nsv6647480copy number variation1nstd229human GRCh38 chr1: 23,275,906-23,280,739 , GRCh37.p13 chr1: 23,602,399-23,607,232 LINC01355
    nsv6647254copy number variation1nstd229human GRCh38 chr1: 21,562,611-27,513,090 , GRCh37.p13 chr1: 21,889,104-27,839,601 RPL18AP5, LINC00339, 184 more genes
    nsv6647227copy number variation1nstd229human GRCh38 chr1: 20,848,934-27,947,465 , GRCh37.p13 chr1: 21,175,427-28,273,976 RPL17P9, ALPL, 218 more genes
    nsv6133948copy number variation1nstd213human GRCh37 chr1: 17,280,000-26,950,001 , GRCh38.p12 chr1: 16,953,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv6133748copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,960,001 , GRCh38.p12 chr1: 16,943,505-26,633,510 ALPL, C1QA, 250 more genes
    nsv6133648copy number variation1nstd213human GRCh37 chr1: 23,300,000-28,930,001 , GRCh38.p12 chr1: 22,973,507-28,603,489 RUNX3, CD52, 195 more genes
    nsv6133572copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,950,001 , GRCh38.p12 chr1: 16,943,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    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
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 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
    nsv3966975insertion1nstd168human GRCh38 chr1: 23,238,651-23,352,611 , GRCh37.p13 chr1: 23,565,144-23,679,104 HNRNPR, RPL29P6, 1 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
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