A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592718



Internal ID16380127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188009727..188016985hg38UCSC Ensembl
Innerchr3:187727515..187734773hg19UCSC Ensembl
Innerchr3:189210209..189217467hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg387259
hg197259
hg187259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8770n54
Supporting Variantsnssv982666, nssv982668, nssv982664, nssv982667, nssv982665
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592718
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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