A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584427



Internal ID16371836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212960603..212988531hg38UCSC Ensembl
Innerchr2:213825327..213853255hg19UCSC Ensembl
Innerchr2:213533572..213561500hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3827929
hg1927929
hg1827929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv931177
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584427
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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