A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564323



Internal ID16351732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35533726..35534869hg38UCSC Ensembl
Innerchr14:36002932..36004075hg19UCSC Ensembl
Innerchr14:35072683..35073826hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381144
hg191144
hg181144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3630n54
Supporting Variantsnssv825730
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564323
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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