A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593480



Internal ID16034203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4961200..5760434hg38UCSC Ensembl
Innerchr4:4962927..5762161hg19UCSC Ensembl
Innerchr4:5013828..5813062hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38799235
hg19799235
hg18799235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989309
Samples
Known GenesC4orf6, CYTL1, EVC, EVC2, STK32B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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