A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596339



Internal ID16037062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183098699..183099862hg38UCSC Ensembl
Innerchr4:184019852..184021015hg19UCSC Ensembl
Innerchr4:184256846..184258009hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381164
hg191164
hg181164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9416n54
Supporting Variantsnssv1017844
Samples
Known GenesWWC2, WWC2-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596339
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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