A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703432



Internal ID127098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101486066..101620066hg38UCSC Ensembl
chr15:102026271..102160269hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38134001
hg19133999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532035
Supporting Variants
Samples
Known GenesPCSK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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