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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv3958460copy number variation1nstd168human GRCh38 chr1: 170,150,681-170,159,266 , GRCh37.p13 chr1: 170,119,822-170,128,407 NTMT2, MIR3119-1, 1 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
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3904950copy number variation1nstd102humanPathogenic GRCh38 chr1: 166,762,832-175,327,423 , NCBI36 chr1: 164,998,693-173,563,182 , GRCh37 chr1: 166,732,069-175,296,559 LINC01681, SELE, 186 more genes
    nsv3901593copy number variation1nstd102humanPathogenic NCBI36 chr1: 161,618,937-174,112,781 , GRCh37 chr1: 163,352,313-175,846,158 , GRCh38 chr1: 163,382,523-175,877,022 NME7, LOC105371618, 233 more genes
    nsv3901149copy number variation1nstd102humanPathogenic NCBI36 chr1: 168,271,833-185,790,903 , GRCh37 chr1: 170,005,209-187,524,280 , GRCh38 chr1: 170,036,068-187,555,148 RGSL1, RNU6-157P, 296 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3896331copy number variation1nstd102humanPathogenic GRCh38 chr1: 164,922,655-180,061,589 , NCBI36 chr1: 163,158,516-178,297,347 , GRCh37 chr1: 164,891,892-180,030,724 GAS5-AS1, RNU7-78P, 290 more genes
    nsv3896314copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,187,474-178,044,969 , NCBI36 chr1: 167,454,098-176,311,592 , GRCh38 chr1: 169,218,236-178,075,834 RPS26P12, BRINP2, 150 more genes
    nsv3894431copy number variation1nstd102humanPathogenic NCBI36 chr1: 159,977,321-172,200,915 , GRCh37 chr1: 161,710,697-173,934,292 , GRCh38 chr1: 161,740,907-173,965,154 RPL21P27, LMX1A, 238 more genes
    nsv3893479copy number variation1nstd102humanPathogenic NCBI36 chr1: 166,550,684-173,535,058 , GRCh38 chr1: 168,314,822-175,299,299 , GRCh37 chr1: 168,284,060-175,268,435 GORAB-AS1, FMO4, 147 more genes
    nsv3890224copy number variation1nstd102humanPathogenic GRCh38 chr1: 157,747,246-176,021,247 , GRCh37 chr1: 157,717,036-175,990,383 , NCBI36 chr1: 155,983,660-174,257,006 LOC101928596, KCNJ10, 475 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 more genes
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