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Items: 1 to 20 of 540

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148161copy number variation1nstd102humanPathogenic GRCh38 chr4: 1-49,062,177 , GRCh37.p13 chr4: 507,005-49,064,194 SLIRPP2, STIM2-AS1, 659 more genes
    nsv7148157copy number variation1nstd102humanPathogenic GRCh38 chr4: 85,624-57,073,230 , GRCh37.p13 chr4: 507,005-57,939,396 OR7E84P, FAM193A, 764 more genes
    nsv7137196copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-34,512,694 , GRCh38.p12 chr4: 68,453-34,511,072 ECM1P2, LOC105378240, 482 more genes
    nsv7097251copy number variation1nstd102humanUncertain significance GRCh37 chr4: 493,125-1,843,544 , GRCh38.p12 chr4: 499,336-1,841,817 PDE6B, LOC105374339, 44 more genes
    nsv7097011copy number variation1nstd102humanUncertain significance GRCh37 chr4: 980,871-981,050 , GRCh38.p12 chr4: 987,083-987,262 IDUA, SLC26A1
    nsv7097010copy number variation1nstd102humanPathogenic GRCh37 chr4: 980,775-981,040 , GRCh38.p12 chr4: 986,987-987,252 SLC26A1, IDUA
    nsv7096869copy number variation1nstd102humanUncertain significance GRCh37 chr4: 980,871-985,491 , GRCh38.p12 chr4: 987,083-991,703 IDUA, SLC26A1
    nsv7096733copy number variation1nstd102humanPathogenic GRCh37 chr4: 520,808-1,020,391 , GRCh38.p12 chr4: 527,019-1,026,603 PDE6B-AS1, PIGG, 19 more genes
    nsv7056080inversion1nstd229human GRCh38 chr4: 802,364-1,026,131 , GRCh37.p13 chr4: 796,152-1,019,919 LOC105374341, LOC105374340, 7 more genes
    nsv6737732copy number variation1nstd229human GRCh38 chr4: 963,501-1,026,300 , GRCh37.p13 chr4: 957,289-1,020,088 DGKQ, SLC26A1, 2 more genes
    nsv6730128copy number variation1nstd229human GRCh38 chr4: 813,467-1,049,563 , GRCh37.p13 chr4: 807,255-1,043,351 TMEM175, LOC105374341, 8 more genes
    nsv6729814copy number variation1nstd229human GRCh38 chr4: 932,438-1,207,526 , GRCh37.p13 chr4: 926,226-1,201,314 SPON2, LOC100421802, 11 more genes
    nsv6728558copy number variation1nstd229human GRCh38 chr4: 852,148-1,011,710 , GRCh37.p13 chr4: 845,936-1,005,498 LOC105374341, IDUA, 5 more genes
    nsv6728138copy number variation1nstd229human GRCh38 chr4: 989,419-992,714 , GRCh37.p13 chr4: 983,207-986,502 IDUA, SLC26A1
    nsv6727583copy number variation1nstd229human GRCh38 chr4: 988,538-994,222 , GRCh37.p13 chr4: 982,326-988,010 IDUA, SLC26A1
    nsv6725712copy number variation1nstd229human GRCh38 chr4: 988,301-990,200 , GRCh37.p13 chr4: 982,089-983,988 IDUA, SLC26A1
    nsv6636691copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,346-2,437,290 , GRCh38.p12 chr4: 68,454-2,435,563 SPON2, TACC3, 77 more genes
    nsv6636582copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,346-12,369,983 , GRCh38.p12 chr4: 68,454-12,368,359 NELFA, OR7E111FP, 289 more genes
    nsv6636534copy number variation1nstd102humanLikely pathogenic GRCh37 chr4: 963,688-2,913,553 , GRCh38.p12 chr4: 969,900-2,911,826 ADD1, CTBP1, 53 more genes
    nsv6636256copy number variation1nstd102humanPathogenic GRCh37 chr4: 1-12,785,001 , GRCh38.p12 chr4: 10,001-12,783,377 AFAP1-AS1, LOC389199, 294 more genes
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