A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584426



Internal ID16371835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212698348..212745635hg38UCSC Ensembl
Innerchr2:213563072..213610359hg19UCSC Ensembl
Innerchr2:213271317..213318604hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3847288
hg1947288
hg1847288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150819
SamplesNINDS_98
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584426
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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