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Items: 1 to 20 of 165

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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
    nsv4594077copy number variation1nstd183human GRCh37 chr1: 171,016,086-171,726,961 , GRCh38.p12 chr1: 171,046,945-171,757,821 MYOCOS, PFN1P1, 23 more genes
    nsv4579979copy number variation1nstd183human GRCh37 chr1: 171,557,154-171,719,518 , GRCh38.p12 chr1: 171,588,015-171,750,378 MYOC, VAMP4, 5 more genes
    nsv4579615copy number variation1nstd183human GRCh37 chr1: 171,578,076-171,610,740 , GRCh38.p12 chr1: 171,608,936-171,641,600 MYOC, MYOCOS
    nsv4454750copy number variation1nstd102humanUncertain significance GRCh37 chr1: 171,575,046-171,613,658 , GRCh38.p12 chr1: 171,605,906-171,644,518 MYOC, MYOCOS
    nsv4454493copy number variation1nstd102humanUncertain significance GRCh37 chr1: 171,578,593-171,610,586 , GRCh38.p12 chr1: 171,609,453-171,641,446 MYOC, MYOCOS
    nsv4452713copy number variation2nstd102humanUncertain significance GRCh37 chr1: 171,578,593-171,658,142 , GRCh38.p12 chr1: 171,609,453-171,689,002 MYOCOS, RPL4P3, 2 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
    nsv4062521copy number variation1nstd166human GRCh37.p13 chr1: 171,533,469-172,923,559 , GRCh38.p12 chr1: 171,564,330-172,954,419 , METTL13, 28 more genes
    nsv4056843copy number variation1nstd166human GRCh37.p13 chr1: 171,578,238-171,660,547 , GRCh38.p12 chr1: 171,609,098-171,691,407 PFN1P1, RPL4P3, 2 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
    nsv3904393copy number variation1nstd102humanPathogenic GRCh37 chr1: 170,898,861-191,034,539 , GRCh38 chr1: 170,929,720-191,065,409 , NCBI36 chr1: 169,165,485-189,301,162 RPL18P2, KIAA0040, 302 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
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