A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564834



Internal ID16352243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49735409..49749368hg38UCSC Ensembl
Innerchr14:50202127..50216086hg19UCSC Ensembl
Innerchr14:49271877..49285836hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3813960
hg1913960
hg1813960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827866
Samples
Known GenesKLHDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564834
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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