A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564317



Internal ID16351726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35233093..35234315hg38UCSC Ensembl
Innerchr14:35702299..35703521hg19UCSC Ensembl
Innerchr14:34772050..34773272hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825722, nssv825721, nssv825720
Samples
Known GenesKIAA0391
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564317
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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