A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596373



Internal ID16037096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185451672..185605031hg38UCSC Ensembl
Innerchr4:186372826..186526185hg19UCSC Ensembl
Innerchr4:186609820..186763179hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38153360
hg19153360
hg18153360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017982
Samples
Known GenesCCDC110, PDLIM3, SORBS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596373
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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