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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5974799inversion1nstd209human GRCh38 chr19: 12,342,936-19,691,231 , GRCh37.p13 chr19: 12,453,750-19,802,040 , GET3, 322 more genes
    nsv5927660copy number variation1nstd209human GRCh38 chr19: 12,877,577-12,877,876 , GRCh37.p13 chr19: 12,988,391-12,988,690 DNASE2
    nsv5702173mobile element insertion1nstd211human GRCh38 chr19: 12,879,614-12,879,614 , GRCh37.p13 chr19: 12,990,428-12,990,428 DNASE2
    nsv5432802mobile element insertion1nstd206human GRCh38 chr19: 12,879,614-12,879,652 , GRCh37.p13 chr19: 12,990,428-12,990,466 DNASE2
    nsv5295678copy number variation1nstd204human GRCh38.p13 chr19: 12,445,401-12,989,100 , GRCh37.p13 chr19: 12,556,215-13,099,914 GCDH, RPL10P16, 46 more genes
    nsv5282549copy number variation1nstd204human GRCh38.p13 chr19: 12,584,101-13,543,500 , GRCh37.p13 chr19: 12,694,915-13,654,314 , NFIX, 50 more genes
    nsv5041043inversion1nstd200human GRCh38 chr19: 11,963,569-20,150,886 , GRCh37.p13 chr19: 12,074,384-20,193,556 , USE1, 369 more genes
    nsv5014546copy number variation1nstd200human GRCh38 chr19: 12,847,644-12,928,125 , GRCh37.p13 chr19: 12,958,458-13,038,939 MAST1, GCDH, 7 more genes
    nsv4860348copy number variation1nstd200human GRCh37 chr19: 12,987,793-12,988,491 , GRCh38.p12 chr19: 12,876,979-12,877,677 DNASE2
    nsv4630529copy number variation2nstd183human GRCh37 chr19: 12,735,946-13,097,039 , GRCh38.p12 chr19: 12,625,132-12,986,225 MAST1, SNORD41, 35 more genes
    nsv4457524copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,354,642-13,424,014 , GRCh38.p12 chr19: 12,243,827-13,313,200 BEST2, TRMT1, 64 more genes
    nsv3924466copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,496,978-14,126,833 , GRCh38 chr19: 11,525,163-14,155,021 , GRCh37 chr19: 11,635,978-14,265,833 JUNB, ZNF442, 135 more genes
    nsv3923415copy number variation1nstd102humanPathogenic NCBI36 chr19: 10,286,934-14,020,806 , GRCh37 chr19: 10,425,934-14,159,806 , GRCh38 chr19: 10,315,258-14,048,994 MAN2B1, SWSAP1, 182 more genes
    nsv3922999copy number variation1nstd102humanPathogenic NCBI36 chr19: 10,240,071-12,946,266 , GRCh37.p13 chr19: 10,379,071-13,085,266 , GRCh38.p12 chr19: 10,268,395-12,974,452 ZNF433, MIR6794, 155 more genes
    nsv3922964copy number variation1nstd102humanPathogenic GRCh38 chr19: 10,319,474-13,777,860 , NCBI36 chr19: 10,291,150-13,749,674 , GRCh37 chr19: 10,430,150-13,888,674 SWSAP1, LOC105372284, 164 more genes
    nsv3920616copy number variation1nstd102humanLikely pathogenic NCBI36 chr19: 8,802,823-13,303,041 , GRCh37 chr19: 8,941,823-13,442,041 , GRCh38 chr19: 8,831,147-13,331,227 ACP5, GET3, 236 more genes
    nsv3919036copy number variation1nstd102humanPathogenic GRCh37 chr19: 11,628,640-13,336,101 , NCBI36 chr19: 11,489,640-13,197,101 , GRCh38 chr19: 11,517,825-13,225,287 ZNF763, RTBDN, 105 more genes
    nsv3918837copy number variation1nstd102humanUncertain significance GRCh37 chr19: 12,924,411-13,230,512 , GRCh38 chr19: 12,813,597-13,119,698 , NCBI36 chr19: 12,785,411-13,091,512 RPS6P25, TRMT1, 22 more genes
    nsv3915094copy number variation1nstd102humanPathogenic GRCh38 chr19: 12,132,052-14,751,798 , NCBI36 chr19: 12,103,867-14,723,610 , GRCh37 chr19: 12,242,867-14,862,610 RN7SL619P, ZNF625-ZNF20, 123 more genes
    nsv3913730copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354 BCKDHA, ADGRE5, 1102 more genes
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