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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5436623copy number variation1nstd206human GRCh38 chr2: 25,168,030-25,168,222 , GRCh37.p13 chr2: 25,390,899-25,391,091 POMC
    nsv5293586copy number variation1nstd204human GRCh38.p13 chr2: 25,159,914-25,160,112 , GRCh37.p13 chr2: 25,382,783-25,382,981 POMC
    nsv4904864copy number variation1nstd200human GRCh38 chr2: 25,159,924-25,160,103 , GRCh37.p13 chr2: 25,382,793-25,382,972 POMC
    nsv4788325copy number variation1nstd200human GRCh37 chr2: 25,382,793-25,382,972 , GRCh38.p12 chr2: 25,159,924-25,160,103 POMC
    nsv4674713copy number variation1nstd102humanUncertain significance GRCh37 chr2: 24,710,112-25,987,357 , GRCh38.p12 chr2: 24,487,243-25,764,488 RN7SL856P, NCOA1, 20 more genes
    nsv4583665copy number variation1nstd183human GRCh37 chr2: 25,127,478-25,572,542 , GRCh38.p12 chr2: 24,904,609-25,349,673 DNMT3A, DNAJC27, 9 more genes
    nsv4450344copy number variation1nstd102humanUncertain significance GRCh37 chr2: 25,286,991-25,395,829 , GRCh38.p12 chr2: 25,064,122-25,172,960 SUCLA2P3, POMC, 1 more genes
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv3919769copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,776,056-33,845,581 , GRCh37.p13 chr2: 22,922,551-33,992,077 , GRCh38.p12 chr2: 22,699,679-33,767,010 RNA5SP88, EIF2B4, 213 more genes
    nsv3919420insertion1nstd102humanPathogenic GRCh37 chr2: 25,387,621-25,387,621 , GRCh38 chr2: 25,164,752-25,164,752 POMC
    nsv3918015insertion1nstd102humanUncertain significance GRCh38 chr2: 25,161,587-25,161,587 , GRCh37 chr2: 25,384,456-25,384,456 POMC
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
    nsv3908038copy number variation1nstd102humanPathogenic GRCh37 chr2: 12,770-33,936,576 , NCBI36 chr2: 2,770-33,790,080 , GRCh38 chr2: 12,770-33,711,509 LOC105373394, PGAM1P6, 507 more genes
    nsv3907033copy number variation1nstd102humanPathogenic NCBI36 chr2: 20,341-28,496,035 , GRCh38 chr2: 30,341-28,419,664 , GRCh37 chr2: 30,341-28,642,531 GTF3C2-AS1, LOC105373399, 434 more genes
    nsv3905104copy number variation1nstd102humanUncertain significance GRCh38 chr2: 25,113,266-25,618,499 , GRCh37 chr2: 25,336,135-25,841,368 , NCBI36 chr2: 25,189,639-25,694,872 DTNB, DTNB-AS1, 5 more genes
    nsv3904367copy number variation1nstd102humanUncertain significance GRCh37 chr2: 25,287,175-27,377,266 , GRCh38 chr2: 25,064,306-27,154,398 , NCBI36 chr2: 25,140,679-27,230,770 TMEM214, LOC105374333, 51 more genes
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