A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712627



Internal ID136293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32079980..32085995hg38UCSC Ensembl
chr17:30406999..30413014hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145255
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004879


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