A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614691



Internal ID16402100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76160654..76181606hg38UCSC Ensembl
Innerchr9:78775570..78796522hg19UCSC Ensembl
Innerchr9:77965390..77986342hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3820953
hg1920953
hg1820953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176452
SamplesHGDP00797
Known GenesPCSK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614691
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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