A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564179



Internal ID16004902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31450522..31503083hg38UCSC Ensembl
Innerchr14:31919728..31972289hg19UCSC Ensembl
Innerchr14:30989479..31042040hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3852562
hg1952562
hg1852562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148942
SamplesNINDS_132
Known GenesDTD2, GPR33
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564179
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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