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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5551260copy number variation1nstd206human GRCh38 chr22: 41,812,160-41,812,309 , GRCh37.p13 chr22: 42,208,164-42,208,313 CCDC134
    nsv5540138copy number variation1nstd206human GRCh38 chr22: 41,806,135-41,807,761 , GRCh37.p13 chr22: 42,202,139-42,203,765 CCDC134
    nsv5538030copy number variation1nstd206human GRCh38 chr22: 41,800,049-41,800,099 , GRCh37.p13 chr22: 42,196,053-42,196,103 CCDC134
    nsv5360600translocation1nstd200human GRCh38 chr22: 41,830,863-41,830,863 , GRCh38 chr22: 41,830,948-41,830,948 , GRCh37.p13 chr22: 42,226,952-42,226,952 , GRCh37.p13 chr22: 42,226,867-42,226,867 CCDC134, SREBF2-AS1
    nsv5281292copy number variation1nstd204human GRCh38.p13 chr22: 41,124,301-41,900,100 , GRCh37.p13 chr22: 41,520,305-42,296,104 SNU13, RANGAP1, 34 more genes
    nsv5163757mobile element insertion1nstd203human GRCh38 chr22: 41,803,662-41,803,677 , GRCh37.p13 chr22: 42,199,666-42,199,681 CCDC134
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729889copy number variation1nstd102humanUncertain significance GRCh37 chr22: 42,158,393-42,409,550 , GRCh38.p12 chr22: 41,762,389-42,013,546 CCDC134, MIR378I, 11 more genes
    nsv4729846copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,853,620-42,385,978 , GRCh38.p12 chr22: 41,457,616-41,989,974 RNU6ATAC22P, CSDC2, 23 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4623192copy number variation1nstd183human GRCh37 chr22: 42,144,830-42,259,098 , GRCh38.p12 chr22: 41,748,826-41,863,094 SREBF2, SREBF2-AS1, 2 more genes
    nsv4535635copy number variation1nstd166human GRCh37.p13 chr22: 42,200,998-42,447,000 , GRCh38.p12 chr22: 41,804,994-42,050,996 MIR378I, CCDC134, 10 more genes
    nsv4501356mobile element insertion1nstd166human GRCh37.p13 chr22: 42,223,138-42,223,138 , GRCh38.p12 chr22: 41,827,134-41,827,134 CCDC134
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv3924878copy number variation1nstd102humanUncertain significance GRCh38 chr22: 41,764,466-41,998,153 , NCBI36 chr22: 40,490,416-40,724,103 , GRCh37 chr22: 42,160,470-42,394,157 MIR378I, CCDC134, 10 more genes
    nsv3924635copy number variation1nstd102humanUncertain significance NCBI36 chr22: 40,522,061-40,597,069 , GRCh37.p13 chr22: 42,192,115-42,267,123 , GRCh38.p12 chr22: 41,796,111-41,871,119 SREBF2, CCDC134, 2 more genes
    nsv3924136copy number variation1nstd102humanPathogenic GRCh38 chr22: 40,202,014-50,735,806 , GRCh37 chr22: 40,598,018-51,174,234 , NCBI36 chr22: 38,927,964-49,521,100 CYP2D8P, TBC1D22A-AS1, 270 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
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