A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv931473



Internal ID15878743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216696744..216720311hg38UCSC Ensembl
Innerchr2:217561467..217585034hg19UCSC Ensembl
Innerchr2:217269712..217293279hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3823568
hg1923568
hg1823568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584456
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv931473
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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