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Items: 1 to 20 of 83

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1056255copy number variation1nstd100human NCBI36 chr21: 14,421,717-46,903,992 , GRCh37.p13 chr21: 15,499,846-48,079,564 , GRCh38.p12 chr21: 14,127,525-46,659,652 , RPL3P1, 612 more genes
    nsv1056076copy number variation3nstd100human NCBI36 chr21: 13,461,549-46,914,746 , GRCh37.p13 chr21: 14,539,678-48,090,318 , GRCh38.p12 chr21: 13,167,357-46,670,406 , LCA5L, 649 more genes
    nsv1055706copy number variation1nstd100human NCBI36 chr21: 36,403,813-36,542,152 , GRCh37.p13 chr21: 37,481,943-37,620,282 , GRCh38.p12 chr21: 36,109,645-36,247,984 RPL3P1, CBR3-AS1, 6 more genes
    nsv1055394copy number variation2nstd100human NCBI36 chr21: 14,421,717-46,913,788 , GRCh37.p13 chr21: 15,499,846-48,089,360 , GRCh38.p12 chr21: 14,127,525-46,669,448 , RNU6-992P, 612 more genes
    esv3557679copy number variation1estd215human GRCh37 chr21: 37,509,801-37,509,829 , GRCh38.p12 chr21: 36,137,503-36,137,531 CBR3-AS1, CBR3
    esv2830360copy number variation1estd208human GRCh38.p12 chr21: 35,191,708-36,867,060 , NCBI36 chr21: 35,485,875-37,161,230 , GRCh37.p13 chr21: 36,564,005-38,239,360 CBR1, CBR3, 35 more genes
    nsv984833copy number variation3nstd11human GRCh38.p12 chr21: 12,965,809-46,677,045 , NCBI36 chr21: 9,758,742-46,921,385 , GRCh37.p13 chr21: 10,736,871-48,096,957 , ADARB1, 653 more genes
    esv3430460copy number variation1estd59human NCBI36 chr21: 36,438,879-36,439,243 , GRCh37.p13 chr21: 37,517,009-37,517,373 , GRCh38.p12 chr21: 36,144,711-36,145,075 CBR3-AS1, CBR3
    esv3425635copy number variation8estd59human NCBI36 chr21: 36,422,977-36,425,825 , GRCh37.p13 chr21: 37,501,107-37,503,955 , GRCh38.p12 chr21: 36,128,809-36,131,657 RPS9P1, CBR3-AS1, 1 more genes
    esv3367304copy number variation1estd59human NCBI36 chr21: 36,430,888-36,431,394 , GRCh37.p13 chr21: 37,509,018-37,509,524 , GRCh38.p12 chr21: 36,136,720-36,137,226 CBR3-AS1, CBR3
    esv3363416copy number variation1estd59human NCBI36 chr21: 36,423,302-36,425,700 , GRCh37.p13 chr21: 37,501,432-37,503,830 , GRCh38.p12 chr21: 36,129,134-36,131,532 RPS9P1, CBR3-AS1, 1 more genes
    nsv979535copy number variation97nstd82eastern lowland gorilla, Cross River gorilla, western lowland gorilla, Denisova hominin, human, pygmy chimpanzee, Pan troglodytes ellioti, Pan troglodytes schweinfurthii, Pan troglodytes troglodytes, Pan troglodytes verus, Sumatran orangutan, Bornean orangutan NCBI36 chr21: 36,425,394-36,428,376 , GRCh37.p13 chr21: 37,503,524-37,506,506 , GRCh38.p12 chr21: 36,131,226-36,134,208 MEMO1P1, CBR3, 2 more genes
    esv3232488copy number variation1estd209human GRCh37 chr21: 37,518,258-37,518,260 , GRCh38.p12 chr21: 36,145,960-36,145,962 CBR3-AS1, CBR3
    esv3232489copy number variation1estd209human GRCh37 chr21: 37,526,673-37,526,674 , GRCh38.p12 chr21: 36,154,375-36,154,376 CBR3-AS1
    esv3232490copy number variation1estd209human GRCh37 chr21: 37,527,364-37,527,366 , GRCh38.p12 chr21: 36,155,066-36,155,068 DOP1B, CBR3-AS1
    esv2976805insertion1estd209human GRCh37 chr21: 37,508,606-37,508,606 , GRCh38.p12 chr21: 36,136,308-36,136,308 CBR3-AS1, CBR3
    esv2976808insertion1estd209human GRCh37 chr21: 37,526,374-37,526,377 , GRCh38.p12 chr21: 36,154,076-36,154,079 CBR3-AS1
    esv2976807insertion1estd209human GRCh37 chr21: 37,520,835-37,520,835 , GRCh38.p12 chr21: 36,148,537-36,148,537 CBR3-AS1
    esv2976809insertion1estd209human GRCh37 chr21: 37,527,401-37,527,401 , GRCh38.p12 chr21: 36,155,103-36,155,103 CBR3-AS1, DOP1B
    esv2976806insertion1estd209human GRCh37 chr21: 37,513,559-37,513,559 , GRCh38.p12 chr21: 36,141,261-36,141,261 CBR3-AS1, CBR3
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