A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596293



Internal ID16383702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180501955..180542155hg38UCSC Ensembl
Innerchr4:181423108..181463308hg19UCSC Ensembl
Innerchr4:181660102..181700302hg18UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3840201
hg1940201
hg1840201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017056
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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