A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520722



Internal ID15448015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52812632..53193877hg38UCSC Ensembl
Innerchr2:53039770..53421015hg19UCSC Ensembl
Innerchr2:52893274..53274519hg18UCSC Ensembl
Innerchr2:52951421..53332666hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38381246
hg19381246
hg18381246
hg17381246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702554, nssv702363, nssv690894, nssv674792
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520722
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer