A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564762



Internal ID16352171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46864868..46927012hg38UCSC Ensembl
Innerchr14:47334071..47396215hg19UCSC Ensembl
Innerchr14:46403821..46465965hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3862145
hg1962145
hg1862145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148609
SamplesHGDP00741
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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