A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996973



Internal ID19194850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76304483..76306584hg38UCSC Ensembl
Outerchr9:78919399..78921500hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152370
Supporting Variants
SamplesKWB1
Known GenesPCSK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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