A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564760



Internal ID16352169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46845735..46917238hg38UCSC Ensembl
Innerchr14:47314938..47386441hg19UCSC Ensembl
Innerchr14:46384688..46456191hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3871504
hg1971504
hg1871504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3701n54
Supporting Variantsnssv827696
Samples
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564760
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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