A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593991



Internal ID16381400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37991693..38008672hg38UCSC Ensembl
Innerchr4:37993314..38010293hg19UCSC Ensembl
Innerchr4:37669709..37686688hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3816980
hg1916980
hg1816980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9011n54
Supporting Variantsnssv995867
Samples
Known GenesTBC1D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593991
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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