A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13708709



Internal ID21230491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76304532..76306925hg38UCSC Ensembl
chr9:78919448..78921841hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382394
hg192394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2819975
Supporting Variants
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13708709
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.734375


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