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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7042588inversion1nstd229human GRCh38 chr2: 20,673,140-20,673,187 , GRCh37.p13 chr2: 20,872,900-20,872,947 GDF7
    nsv6676336copy number variation1nstd229human GRCh38 chr2: 20,654,301-20,666,780 , GRCh37.p13 chr2: 20,854,061-20,866,540 GDF7
    nsv6658422copy number variation1nstd229human GRCh38 chr2: 19,749,421-21,263,284 , GRCh37.p13 chr2: 19,949,182-21,486,156 LOC107985856, CISD1P1, 33 more genes
    nsv6658213copy number variation1nstd229human GRCh38 chr2: 20,676,259-20,683,049 , GRCh37.p13 chr2: 20,876,019-20,882,809 GDF7, LDAH
    nsv6636815copy number variation1nstd102humanPathogenic GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573 LOC105374455, RN7SL674P, 504 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv4900533copy number variation1nstd200human GRCh38 chr2: 20,672,651-20,676,247 , GRCh37.p13 chr2: 20,872,411-20,876,007 GDF7
    nsv4451022copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,631,145-21,729,493 , GRCh38.p12 chr2: 15,491,021-21,506,621 RAD51AP2, LOC101928149, 82 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
    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
    nsv3908459copy number variation1nstd102humanPathogenic NCBI36 chr2: 1,647,394-23,740,517 , GRCh38 chr2: 1,664,615-23,664,142 , GRCh37 chr2: 1,668,387-23,887,012 EIF1P7, LOC105373398, 277 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
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3896997copy number variation1nstd102humanPathogenic GRCh38 chr2: 12,770-25,039,694 , GRCh37 chr2: 12,770-25,262,563 , NCBI36 chr2: 2,770-25,116,067 LOC105373359, MYT1L-AS1, 333 more genes
    nsv3893260copy number variation1nstd102humanPathogenic GRCh37 chr2: 17,019-26,541,714 , GRCh38 chr2: 17,019-26,318,846 , NCBI36 chr2: 7,019-26,395,218 LOC102723389, LOC105373433, 362 more genes
    nsv3891917copy number variation1nstd102humanPathogenic GRCh37 chr2: 16,904,863-21,823,606 , GRCh38 chr2: 16,723,596-21,600,734 , NCBI36 chr2: 16,768,344-21,677,111 LOC105373454, RAD51AP2, 68 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
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