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Items: 1 to 20 of 185

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5898187copy number variation1nstd209human GRCh38 chr5: 75,672,823-75,672,957 , GRCh37.p13 chr5: 74,968,648-74,968,782 POC5
    nsv5630760insertion1nstd207human GRCh38 chr5: 75,672,823-75,672,823 , GRCh37.p13 chr5: 74,968,648-74,968,648 POC5
    nsv5469138copy number variation1nstd206human GRCh38 chr5: 75,672,823-75,672,958 , GRCh37.p13 chr5: 74,968,648-74,968,783 POC5
    nsv5464576copy number variation1nstd206human GRCh38 chr5: 75,671,821-75,672,419 , GRCh37.p13 chr5: 74,967,646-74,968,244 POC5, ANKDD1B
    nsv5454311copy number variation1nstd206human GRCh38 chr5: 75,531,063-75,709,125 , GRCh37.p13 chr5: 74,826,888-75,004,950 , POLK, 4 more genes
    nsv5368542translocation1nstd200human GRCh38 chr5: 75,685,318-75,685,318 , GRCh38 chr5: 75,685,398-75,685,398 , GRCh37.p13 chr5: 74,981,223-74,981,223 , GRCh37.p13 chr5: 74,981,143-74,981,143 POC5
    nsv5342786translocation1nstd200human GRCh37 chr5: 74,981,223-74,981,223 , GRCh37 chr5: 74,981,143-74,981,143 , GRCh38.p12 chr5: 75,685,318-75,685,318 , GRCh38.p12 chr5: 75,685,398-75,685,398 POC5
    nsv5236400copy number variation1nstd204human GRCh38.p13 chr5: 75,699,401-75,701,700 , GRCh37.p13 chr5: 74,995,226-74,997,525 POC5
    nsv5233431copy number variation1nstd204human GRCh38.p13 chr5: 75,700,701-75,701,500 , GRCh37.p13 chr5: 74,996,526-74,997,325 POC5
    nsv5083800mobile element insertion1nstd203human GRCh38 chr5: 75,683,739-75,683,739 , GRCh37.p13 chr5: 74,979,564-74,979,564 POC5
    nsv5082568mobile element insertion1nstd203human GRCh38 chr5: 75,688,426-75,688,440 , GRCh37.p13 chr5: 74,984,251-74,984,265 POC5
    nsv4948902copy number variation1nstd200human GRCh38 chr5: 75,680,298-75,849,422 , GRCh37.p13 chr5: 74,976,123-75,145,247 SV2C, POC5, 4 more genes
    nsv4948901copy number variation1nstd200human GRCh38 chr5: 75,672,823-75,672,958 , GRCh37.p13 chr5: 74,968,648-74,968,783 POC5
    nsv4808768copy number variation1nstd200human GRCh37 chr5: 75,002,886-75,003,361 , GRCh38.p12 chr5: 75,707,061-75,707,536 RNU6-680P, POC5
    nsv4805592copy number variation1nstd200human GRCh37 chr5: 74,968,648-74,968,783 , GRCh38.p12 chr5: 75,672,823-75,672,958 POC5
    nsv4765035insertion1nstd199human GRCh37 chr5: 74,968,736-74,968,736 , GRCh38.p12 chr5: 75,672,911-75,672,911 POC5
    nsv4675667copy number variation1nstd102humanPathogenic GRCh37 chr5: 72,790,061-97,478,870 , GRCh38.p12 chr5: 73,494,236-98,143,166 LOC101929380, LIX1-AS1, 318 more genes
    nsv4637305copy number variation4nstd186human GRCh37 chr5: 74,968,648-74,968,783 , GRCh38.p12 chr5: 75,672,823-75,672,958 POC5
    nsv4457142copy number variation1nstd102humanUncertain significance GRCh37 chr5: 74,892,001-75,161,433 , GRCh38.p12 chr5: 75,596,176-75,865,608 LOC391798, LOC441087, 6 more genes
    nsv4436202copy number variation1nstd102humanUncertain significance GRCh37 chr5: 14,685,137-149,511,942 , GRCh38.p12 chr5: 14,685,028-150,132,379 RNU1-150P, RNU6-727P, 1757 more genes
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