A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522463



Internal ID15449756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53248200..53324462hg38UCSC Ensembl
Innerchr2:53475338..53551600hg19UCSC Ensembl
Innerchr2:53328842..53405104hg18UCSC Ensembl
Innerchr2:53386989..53463251hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3876263
hg1976263
hg1876263
hg1776263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv219n21
Supporting Variantsnssv705827
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522463
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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