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Items: 1 to 20 of 114

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv6648753copy number variation1nstd229human GRCh38 chr1: 32,359,321-32,360,258 , GRCh37.p13 chr1: 32,824,922-32,825,859 FAM229A, TSSK3
    nsv6648752copy number variation1nstd229human GRCh38 chr1: 32,350,932-32,359,612 , GRCh37.p13 chr1: 32,816,533-32,825,213 TSSK3, LOC105378629, 1 more genes
    nsv6648751copy number variation1nstd229human GRCh38 chr1: 32,340,909-32,447,130 , GRCh37.p13 chr1: 32,806,510-32,912,731 LRRC37A12P, FAM229A, 4 more genes
    nsv6325815copy number variation1nstd223human GRCh38 chr1: 32,354,780-32,364,697 , GRCh37.p13 chr1: 32,820,381-32,830,298 FAM229A, TSSK3, 1 more genes
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv6133773copy number variation1nstd213human GRCh37 chr1: 31,350,000-33,290,001 , GRCh38.p12 chr1: 30,877,153-32,824,400 ADGRB2, COL16A1, 62 more genes
    nsv6053139insertion1nstd212human GRCh38 chr1: 32,364,405-32,364,405 , GRCh37.p13 chr1: 32,830,006-32,830,006 BSDC1, TSSK3
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    nsv5361107translocation1nstd200human GRCh38 chr1: 32,365,639-32,365,639 , GRCh38 chr1: 32,368,246-32,368,246 , GRCh37.p13 chr1: 32,833,847-32,833,847 , GRCh37.p13 chr1: 32,831,240-32,831,240 BSDC1, TSSK3
    nsv5073525mobile element insertion1nstd203human GRCh38 chr1: 32,359,129-32,359,149 , GRCh37.p13 chr1: 32,824,730-32,824,750 TSSK3
    nsv4780759copy number variation1nstd200human GRCh37 chr1: 32,820,347-32,830,315 , GRCh38.p12 chr1: 32,354,746-32,364,714 FAM229A, TSSK3, 1 more genes
    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
    nsv4674454copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818 AK2, ADGRB2, 97 more genes
    nsv4454237copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,139,063-32,940,848 , GRCh38.p12 chr1: 31,673,462-32,475,247 IQCC, TSSK3, 26 more genes
    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
    nsv4037171copy number variation1nstd166human GRCh37.p13 chr1: 32,820,381-32,830,193 , GRCh38.p12 chr1: 32,354,780-32,364,592 BSDC1, FAM229A, 1 more genes
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