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Items: 1 to 20 of 121

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5877676copy number variation1nstd209human GRCh38 chr1: 181,405-181,481 , GRCh37.p13 chr1: 10,892-10,968 WASH9P, DDX11L17
    nsv5669486inversion1nstd207human GRCh38 chr1: 10,002-347,967 , GRCh37.p13 chr1: 10,002-267,719 , OR4F5, 19 more genes
    nsv5615344insertion1nstd207human GRCh38 chr1: 180,978-180,978 , GRCh37.p8 chr: NaN-NaN , GRCh37.p13 chr: NaN-NaN DDX11L17, WASH9P
    nsv5580066copy number variation1nstd207human GRCh38 chr1: 181,210-181,448 , GRCh37.p13 chr1: 10,672-10,935 WASH9P, DDX11L17
    nsv5576036copy number variation1nstd207human GRCh38 chr1: 180,283-180,506 , GRCh37.p8 chr: NaN-NaN , GRCh37.p13 chr: NaN-NaN WASH9P, DDX11L17
    nsv5572831copy number variation1nstd207human GRCh38 chr1: 180,551-180,885 , GRCh37.p8 chr: NaN-NaN , GRCh37.p13 chr: NaN-NaN WASH9P, DDX11L17
    nsv5422147copy number variation1nstd206human GRCh38 chr1: 182,000-206,000 , GRCh37.p13 chr1: 11,481-35,484 , LOC102723897, 3 more genes
    nsv4728187copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-5,592,835 , GRCh38.p12 chr1: 10,001-5,532,775 UBE2J2, MRPL20, 196 more genes
    nsv4674646copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-3,349,513 , GRCh38.p12 chr1: 82,154-3,432,949 PRKCZ-AS1, PRKCZ, 156 more genes
    nsv4661876copy number variation2nstd186human GRCh37 chr1: 40,718-731,985 , GRCh38.p12 chr1: 40,718-796,605 , OR4F29, 36 more genes
    nsv4659971copy number variation2nstd186human GRCh37 chr1: 25,112-233,565 , GRCh38.p12 chr1: 25,112-263,814 , MIR6859-2, 16 more genes
    nsv4581209copy number variation2nstd183human GRCh37 chr1: 40,718-731,985 , GRCh38.p12 chr1: 40,718-796,605 , OR4G11P, 36 more genes
    nsv4581068copy number variation2nstd183human GRCh37 chr1: 25,112-233,565 , GRCh38.p12 chr1: 25,112-263,814 , LOC102723897, 16 more genes
    nsv4579388copy number variation1nstd183human GRCh37 chr1: 156,721-236,932 , GRCh38.p12 chr1: 156,721-267,181 , RPL23AP21, 6 more genes
    nsv4436105copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-11,784,118 , GRCh38.p12 chr1: 82,154-11,724,061 PARK7, RNF223, 325 more genes
    nsv4435992copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-7,637,060 , GRCh38.p12 chr1: 82,154-7,577,000 SNORD167, SEPTIN14P14, 222 more genes
    nsv4401680copy number variation1nstd174human GRCh37 chr1: 10,499-235,938 , GRCh38.p12 chr1: 10,499-266,187 , LOC729737, 18 more genes
    nsv4394999copy number variation1nstd174human GRCh37 chr1: 61,723-356,542 , GRCh38.p12 chr1: 61,723-297,968 , GTF2IP10, 11 more genes
    nsv3962962complex substitution1nstd168human GRCh38 chr1: 178,811-190,265 , GRCh37.p13 chr1: 10,469-19,742 WASH9P, MIR6859-2, 2 more genes
    nsv3956620copy number variation1nstd168human GRCh38 chr1: 176,686-276,083 , GRCh37.p13 chr1: 176,686-245,834 , RPL23AP21, 4 more genes
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