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Items: 1 to 20 of 149

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5831056copy number variation1nstd209human GRCh38 chr1: 99,281,295-99,282,740 , GRCh37.p13 chr1: 99,746,851-99,748,296 PLPPR4
    nsv5353649translocation1nstd200human GRCh38 chr1: 99,290,275-99,290,275 , GRCh38 chr1: 99,289,439-99,289,439 , GRCh37.p13 chr1: 99,755,831-99,755,831 , GRCh37.p13 chr1: 99,754,995-99,754,995 PLPPR4
    nsv5286413copy number variation1nstd204human GRCh38.p13 chr1: 99,289,434-99,290,284 , GRCh37.p13 chr1: 99,754,990-99,755,840 PLPPR4
    nsv5171007mobile element insertion1nstd203human GRCh38 chr1: 99,267,777-99,267,790 , GRCh37.p13 chr1: 99,733,333-99,733,346 PLPPR4
    nsv4788816copy number variation1nstd200human GRCh37 chr1: 99,754,995-99,755,831 , GRCh38.p12 chr1: 99,289,439-99,290,275 PLPPR4
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4728281copy number variation1nstd102humanUncertain significance GRCh37 chr1: 99,747,868-99,956,188 , GRCh38.p12 chr1: 99,282,312-99,490,632 PLPPR4, LINC01708, 1 more genes
    nsv4463140mobile element insertion1nstd166human GRCh37.p13 chr1: 99,739,119-99,739,119 , GRCh38.p12 chr1: 99,273,563-99,273,563 PLPPR4
    nsv4454312copy number variation1nstd102humanUncertain significance GRCh37 chr1: 99,767,886-99,799,729 , GRCh38.p12 chr1: 99,302,330-99,334,173 PLPPR4
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4069374copy number variation1nstd166human GRCh37.p13 chr1: 99,754,999-99,755,831 , GRCh38.p12 chr1: 99,289,443-99,290,275 PLPPR4
    nsv4067037copy number variation1nstd166human GRCh37.p13 chr1: 99,775,487-99,776,526 , GRCh38.p12 chr1: 99,309,931-99,310,970 PLPPR4
    nsv3916187copy number variation1nstd102humanPathogenic NCBI36 chr1: 97,510,536-104,123,269 , GRCh37.p13 chr1: 97,737,948-104,321,746 , GRCh38.p12 chr1: 97,272,392-103,779,124 SLC35A3, ACTG1P4, 80 more genes
    nsv3909776copy number variation1nstd102humanPathogenic GRCh37 chr1: 97,737,905-109,435,760 , GRCh38 chr1: 97,272,349-108,893,138 , NCBI36 chr1: 97,510,493-109,237,283 SNX7, LOC112268286, 133 more genes
    nsv3901628copy number variation1nstd102humanUncertain significance NCBI36 chr1: 99,348,888-99,917,388 , GRCh38 chr1: 99,110,744-99,679,244 , GRCh37 chr1: 99,576,300-100,144,800 LOC107985093, LINC01708, 3 more genes
    nsv3898327copy number variation1nstd102humanPathogenic GRCh38 chr1: 83,457,325-104,273,917 , GRCh37 chr1: 83,923,008-104,816,539 , NCBI36 chr1: 83,695,596-104,618,062 LINC01773, LOC107985095, 322 more genes
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