A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614692



Internal ID16402101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76302462..76306933hg38UCSC Ensembl
Innerchr9:78917378..78921849hg19UCSC Ensembl
Innerchr9:78107198..78111669hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg384472
hg194472
hg184472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1137506
Samples
Known GenesPCSK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614692
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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