A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517850



Internal ID15445143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42810532..42813437hg38UCSC Ensembl
Innerchr2:43037672..43040577hg19UCSC Ensembl
Innerchr2:42891176..42894081hg18UCSC Ensembl
Innerchr2:42949323..42952228hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382906
hg192906
hg182906
hg172906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695255
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517850
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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