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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3871535copy number variation1nstd102humanPathogenic GRCh38 chr6: 65,353,618-65,494,662 , GRCh37.p13 chr6: 66,063,511-66,204,555 EYS
    nsv3879220copy number variation1nstd102humanPathogenic GRCh37 chr4: 93,978,239-94,078,203 , GRCh38.p12 chr4: 93,057,088-93,157,052 GRID2
    nsv5200285copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,199,886-222,298,997 , GRCh38.p12 chr2: 221,335,166-221,434,277 EPHA4
    nsv4682660copy number variation1nstd102humanPathogenic GRCh37 chr6: 65,059,867-65,136,655 , GRCh38.p12 chr6: 64,349,974-64,426,762 EYS
    nsv4685736copy number variation1nstd102humanPathogenic GRCh37 chr8: 100,479,441-100,545,102 , GRCh38.p12 chr8: 99,467,213-99,532,874 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
    nsv6289877copy number variation1nstd102humanPathogenic GRCh37 chr5: 172,252,136-172,274,628 , GRCh38.p12 chr5: 172,825,133-172,847,625 ERGIC1
    nsv7148142copy number variation1nstd102humanPathogenic GRCh38 chr16: 89,764,114-89,781,847 , GRCh37.p13 chr16: 89,830,522-89,848,255 FANCA
    nsv4681804copy number variation1nstd102humanPathogenic GRCh37 chr15: 73,000,565-73,014,826 , GRCh38.p12 chr15: 72,708,224-72,722,485 BBS4
    nsv4768342copy number variation1nstd102humanPathogenic GRCh38 chr9: 130,677,172-130,686,904 , GRCh37 chr9: 133,552,559-133,562,291 PRDM12
    nsv4685774copy number variation1nstd102humanPathogenic GRCh37 chr22: 20,036,384-20,045,784 , GRCh38.p12 chr22: 20,048,861-20,058,261 TANGO2
    nsv4716560copy number variation1nstd102humanPathogenic GRCh38 chr4: 154,740,841-154,749,136 , GRCh37.p13 chr4: 155,661,993-155,670,288 LRAT
    nsv1398332copy number variation1nstd102humanPathogenic GRCh38 chr3: 136,246,207-136,254,258 , GRCh37 chr3: 135,965,049-135,973,100 PCCB
    nsv4769344copy number variation1nstd102humanPathogenic GRCh38 chr14: 21,337,182-21,344,962 , GRCh37 chr14: 21,805,341-21,813,121 RPGRIP1
    nsv4716438copy number variation1nstd102humanPathogenic GRCh38 chr4: 106,170,668-106,178,063 , GRCh37 chr4: 107,091,825-107,099,220 TBCK
    nsv6137728copy number variation1nstd102humanPathogenic GRCh37 chr3: 58,086,558-58,092,989 , GRCh38 chr3: 58,100,831-58,107,262 FLNB
    nsv6137755copy number variation1nstd102humanPathogenic GRCh37 chr3: 58,108,466-58,114,632 , GRCh38 chr3: 58,122,739-58,128,905 FLNB
    nsv5059971copy number variation1nstd102humanPathogenic GRCh37 chr16: 9,856,965-9,862,986 , GRCh38 chr16: 9,763,108-9,769,129 GRIN2A
    nsv3882039copy number variation1nstd102humanPathogenic GRCh37 chr6: 10,876,124-10,882,098 , GRCh38 chr6: 10,875,891-10,881,865 GCM2
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