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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4685765copy number variation1nstd102humanPathogenic GRCh37 chr22: 34,152,899-34,236,578 , GRCh38.p12 chr22: 33,756,912-33,840,590 LARGE1
    nsv4685736copy number variation1nstd102humanPathogenic GRCh37 chr8: 100,479,441-100,545,102 , GRCh38.p12 chr8: 99,467,213-99,532,874 VPS13B
    nsv4685745copy number variation1nstd102humanPathogenic GRCh37 chr8: 100,108,619-100,160,324 , GRCh38.p12 chr8: 99,096,391-99,148,096 VPS13B
    nsv4685763copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,029,135-20,062,954 , GRCh38.p12 chr22: 20,041,612-20,075,431 TANGO2
    nsv4685734copy number variation1nstd102humanPathogenic GRCh37 chr6: 99,347,158-99,374,801 , GRCh38.p12 chr6: 98,899,282-98,926,925 FBXL4
    nsv4685776copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,328,087-48,339,179 , GRCh38.p12 chr19: 47,824,830-47,835,922 CRX
    nsv4685778copy number variation1nstd102humanPathogenic GRCh37 chr17: 57,119,174-57,128,690 , GRCh38.p12 chr17: 59,041,813-59,051,329 TRIM37
    nsv4685774copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,036,384-20,045,784 , GRCh38.p12 chr22: 20,048,861-20,058,261 TANGO2
    nsv4685762copy number variation1nstd102humanPathogenic GRCh37 chr17: 73,735,514-73,739,660 , GRCh38.p12 chr17: 75,739,433-75,743,579 ITGB4
    nsv3889720copy number variation1nstd102humanPathogenic GRCh37 chr2: 228,230,759-228,234,864 , GRCh38.p12 chr2: 227,366,043-227,370,148 TM4SF20
    nsv4685748copy number variation1nstd102humanPathogenic GRCh37 chr6: 158,567,861-158,571,603 , GRCh38.p12 chr6: 158,146,829-158,150,571 SERAC1
    nsv5564491copy number variation1nstd102humanPathogenic GRCh37 chr7: 6,017,215-6,019,662 , GRCh38 chr7: 5,977,584-5,980,031 PMS2
    nsv5564279copy number variation1nstd102humanPathogenic GRCh38 chr7: 5,973,397-5,975,825 , GRCh37 chr7: 6,013,028-6,015,456 PMS2
    nsv5564420copy number variation2nstd102humanPathogenic GRCh37 chr2: 47,637,229-47,638,251 , GRCh38 chr2: 47,410,090-47,411,112 MSH2
    nsv4685706copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,111,022-78,111,871 , GRCh38.p12 chr5: 78,815,199-78,816,048 ARSB
    nsv4685741copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,844,711-13,845,454 , GRCh38.p12 chr5: 13,844,602-13,845,345 DNAH5
    nsv5564281copy number variation1nstd102humanPathogenic GRCh38 chr7: 5,995,532-5,995,900 , GRCh37 chr7: 6,035,163-6,035,531 PMS2
    nsv5564278copy number variation1nstd102humanPathogenic GRCh38 chr7: 5,973,396-5,973,712 , GRCh37 chr7: 6,013,027-6,013,343 PMS2
    nsv4685733copy number variation1nstd102humanPathogenic GRCh37 chr7: 146,997,280-146,997,587 , GRCh38.p12 chr7: 147,300,188-147,300,495 CNTNAP2
    nsv4685730copy number variation1nstd102humanPathogenic GRCh37 chr16: 28,497,668-28,497,972 , GRCh38.p12 chr16: 28,486,347-28,486,651 CLN3
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