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Items: 1 to 20 of 127

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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
    nsv5931878copy number variation1nstd209human GRCh38 chr19: 18,307,634-18,308,278 , GRCh37.p13 chr19: 18,418,444-18,419,088 LSM4
    nsv5522281copy number variation1nstd206human GRCh38 chr19: 18,307,637-18,308,279 , GRCh37.p13 chr19: 18,418,447-18,419,089 LSM4
    nsv5284071copy number variation1nstd204human GRCh38.p13 chr19: 17,954,901-18,442,000 , GRCh37.p13 chr19: 18,065,710-18,552,810 ISYNA1, LOC105372300, 27 more genes
    nsv5282384copy number variation1nstd204human GRCh38.p13 chr19: 18,292,801-18,706,100 , GRCh37.p13 chr19: 18,403,611-18,816,910 ELL, FKBP8, 17 more genes
    nsv5204329mobile element deletion1nstd204human GRCh37.p13 chr19: 18,428,136-18,428,463 , GRCh38.p13 chr19: 18,317,326-18,317,653 LSM4, LOC105372300
    nsv5041043inversion1nstd200human GRCh38 chr19: 11,963,569-20,150,886 , GRCh37.p13 chr19: 12,074,384-20,193,556 , USE1, 369 more genes
    nsv5019416copy number variation1nstd200human GRCh38 chr19: 18,319,701-18,322,228 , GRCh37.p13 chr19: 18,430,511-18,433,038 LSM4, LOC105372300
    nsv5019415copy number variation1nstd200human GRCh38 chr19: 18,307,637-18,308,279 , GRCh37.p13 chr19: 18,418,447-18,419,089 LSM4
    nsv4769777mobile element deletion1nstd200human GRCh37 chr19: 18,428,145-18,428,455 , GRCh38.p12 chr19: 18,317,335-18,317,645 LOC105372300, LSM4
    nsv4729750copy number variation1nstd102humanPathogenic GRCh37 chr19: 14,286,624-20,956,753 , GRCh38.p12 chr19: 14,175,812-20,773,947 LOC105372309, RAB8A, 269 more genes
    nsv3971138copy number variation1nstd168human GRCh38 chr19: 18,266,220-18,318,356 , GRCh37.p13 chr19: 18,377,030-18,429,166 JUND, LSM4, 4 more genes
    nsv3923519copy number variation1nstd102humanUncertain significance GRCh38 chr19: 18,133,970-18,424,117 , GRCh37 chr19: 18,244,780-18,534,927 , NCBI36 chr19: 18,105,780-18,395,927 RPL39P38, JUND, 18 more genes
    nsv3922457copy number variation1nstd102humanPathogenic GRCh37 chr19: 14,085,489-28,330,584 , GRCh38 chr19: 13,974,677-27,839,676 , NCBI36 chr19: 13,946,489-33,022,424 REX1BD, ZNF92P2, 416 more genes
    nsv3921076copy number variation1nstd102humanPathogenic GRCh38 chr19: 15,133,594-24,193,591 , GRCh37 chr19: 15,244,405-24,376,393 , NCBI36 chr19: 15,105,405-24,168,233 MRPL34, BNIP3P25, 358 more genes
    nsv3915387copy number variation1nstd102humanPathogenic GRCh37 chr19: 18,033,043-18,573,963 , NCBI36 chr19: 17,894,043-18,434,963 , GRCh38 chr19: 17,922,234-18,463,153 CSP3, LOC102725254, 28 more genes
    nsv3914228copy number variation1nstd102humanPathogenic NCBI36 chr19: 17,148,576-40,106,894 , GRCh38 chr19: 17,176,767-34,924,150 , GRCh37 chr19: 17,287,576-35,415,054 LOC105372355, SUGP2, 411 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
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 ZNF321P, ZNF861P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 BABAM1, BEST2, 2426 more genes
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