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Items: 1 to 20 of 120

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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
    nsv5690226mobile element insertion2nstd211human GRCh38 chr2: 27,258,492-27,258,492 , GRCh37.p13 chr2: 27,481,360-27,481,360 SLC30A3
    nsv5407774mobile element insertion1nstd206human GRCh38 chr2: 27,258,492-27,258,543 , GRCh37.p13 chr2: 27,481,360-27,481,411 SLC30A3
    nsv5074274mobile element insertion1nstd203human GRCh38 chr2: 27,258,476-27,258,492 , GRCh37.p13 chr2: 27,481,344-27,481,360 SLC30A3
    nsv4900792copy number variation1nstd200human GRCh38 chr2: 27,272,846-27,274,054 , GRCh37.p13 chr2: 27,495,714-27,496,922 DNAJC5G, SLC30A3
    nsv4900791copy number variation1nstd200human GRCh38 chr2: 27,267,759-27,293,750 , GRCh37.p13 chr2: 27,490,627-27,516,618 DNAJC5G, SLC30A3, 1 more genes
    nsv4775879copy number variation1nstd200human GRCh37 chr2: 27,490,612-27,516,632 , GRCh38.p12 chr2: 27,267,744-27,293,764 DNAJC5G, SLC30A3, 1 more genes
    nsv4466428mobile element insertion1nstd166human GRCh37.p13 chr2: 27,481,344-27,481,344 , GRCh38.p12 chr2: 27,258,476-27,258,476 SLC30A3
    nsv4389610copy number variation1nstd171human GRCh37 chr2: 27,482,299-27,482,407 , GRCh38.p12 chr2: 27,259,431-27,259,539 SLC30A3
    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
    nsv4068617copy number variation1nstd166human GRCh37.p13 chr2: 27,491,000-27,516,000 , GRCh38.p12 chr2: 27,268,132-27,293,132 SLC30A3, DNAJC5G, 1 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
    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
    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
    nsv3896933copy number variation1nstd102humanUncertain significance NCBI36 chr2: 25,835,975-27,374,008 , GRCh38 chr2: 25,759,602-27,297,636 , GRCh37 chr2: 25,982,471-27,520,504 CAD, PREB, 48 more genes
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