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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5563779sequence alteration1nstd206human GRCh38 chr1: 159,807,892-159,974,165 , GRCh37.p13 chr1: 159,777,682-159,943,955 , TAGLN2, 11 more genes
    nsv5424661copy number variation1nstd206human GRCh38 chr1: 159,840,968-159,841,021 , GRCh37.p13 chr1: 159,810,758-159,810,811 SNHG28
    nsv5418926copy number variation1nstd206human GRCh38 chr1: 159,834,549-159,837,810 , GRCh37.p13 chr1: 159,804,339-159,807,600 SLAMF8, SNHG28
    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
    nsv4903948copy number variation1nstd200human GRCh38 chr1: 159,156,577-160,055,289 , GRCh37.p13 chr1: 159,126,367-160,025,079 , IGSF9, 40 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
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4450321copy number variation1nstd102humanUncertain significance GRCh37 chr1: 159,808,188-161,011,163 , GRCh38.p12 chr1: 159,838,398-161,041,373 LOC107985216, PPIAP37, 50 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
    nsv4316456sequence alteration1nstd166human GRCh37.p13 chr1: 159,777,682-159,943,955 , GRCh38.p12 chr1: 159,807,892-159,974,165 , SNHG28, 11 more genes
    nsv4071459copy number variation1nstd166human GRCh37.p13 chr1: 159,810,758-159,810,811 , GRCh38.p12 chr1: 159,840,968-159,841,021 SNHG28
    nsv4061398copy number variation1nstd166human GRCh37.p13 chr1: 159,796,158-159,806,662 , GRCh38.p12 chr1: 159,826,368-159,836,872 , SLAMF8, 1 more genes
    nsv3958534copy number variation1nstd168human GRCh38 chr1: 159,829,994-159,841,213 , GRCh37.p13 chr1: 159,799,784-159,811,003 SNHG28, SLAMF8
    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
    nsv3906717copy number variation1nstd102humanPathogenic GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947 NOS1AP, LY9, 220 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
    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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