A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596340



Internal ID16383749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183098699..183100083hg38UCSC Ensembl
Innerchr4:184019852..184021236hg19UCSC Ensembl
Innerchr4:184256846..184258230hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381385
hg191385
hg181385
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017846, nssv1017845
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)nsv596340
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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