A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594316



Internal ID16381725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:61132339..61134624hg38UCSC Ensembl
Innerchr4:61998057..62000342hg19UCSC Ensembl
Innerchr4:61680652..61682937hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg382286
hg192286
hg182286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1000192
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594316
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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