A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564761



Internal ID16352170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46845735..46926598hg38UCSC Ensembl
Innerchr14:47314938..47395801hg19UCSC Ensembl
Innerchr14:46384688..46465551hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3880864
hg1980864
hg1880864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3701n54
Supporting Variantsnssv827697
Samples
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564761
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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