A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564756



Internal ID16352165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46784802..46926598hg38UCSC Ensembl
Innerchr14:47254005..47395801hg19UCSC Ensembl
Innerchr14:46323755..46465551hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38141797
hg19141797
hg18141797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3700n54
Supporting Variantsnssv1148608
SamplesNINDS_95
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564756
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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