A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv932429



Internal ID15879699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221255109..222040142hg38UCSC Ensembl
Innerchr2:222119829..222904861hg19UCSC Ensembl
Innerchr2:221828073..222613105hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38785034
hg19785033
hg18785033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584512
Supporting Variants
Samples
Known GenesEPHA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv932429
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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