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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7046636inversion1nstd229human GRCh38 chr1: 200,047,937-200,594,899 , GRCh37.p13 chr1: 200,017,065-200,564,027 KIF14, CCNQP1, 7 more genes
    nsv6675829copy number variation1nstd229human GRCh38 chr1: 200,400,678-200,403,964 , GRCh37.p13 chr1: 200,369,806-200,373,092 ZNF281
    nsv6673351copy number variation1nstd229human GRCh38 chr1: 200,408,501-200,461,100 , GRCh37.p13 chr1: 200,377,629-200,430,228 ZNF281
    nsv6662863copy number variation1nstd229human GRCh38 chr1: 200,407,501-200,490,100 , GRCh37.p13 chr1: 200,376,629-200,459,228 ZNF281
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6133964copy number variation1nstd213human GRCh37 chr1: 200,270,000-200,790,001 , GRCh38.p12 chr1: 200,300,872-200,820,873 KIF14, CAMSAP2, 5 more genes
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133844copy number variation1nstd213human GRCh37 chr1: 199,820,000-202,610,001 , GRCh38.p12 chr1: 199,850,872-202,640,873 ELF3, NR5A2, 69 more genes
    nsv6133842copy number variation1nstd213human GRCh37 chr1: 196,810,000-202,980,001 , GRCh38.p12 chr1: 196,840,870-203,010,873 ELF3, NR5A2, 120 more genes
    nsv6133619copy number variation1nstd213human GRCh37 chr1: 200,310,000-200,400,001 , GRCh38.p12 chr1: 200,340,872-200,430,873 ZNF281, LINC00862
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4891548copy number variation1nstd200human GRCh38 chr1: 200,400,675-200,403,962 , GRCh37.p13 chr1: 200,369,803-200,373,090 ZNF281
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
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