A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596312



Internal ID16383721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182453560..182483594hg38UCSC Ensembl
Innerchr4:183374713..183404747hg19UCSC Ensembl
Innerchr4:183611707..183641741hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3830035
hg1930035
hg1830035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153269
SamplesHGDP01325
Known GenesTENM3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596312
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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