A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713087



Internal ID136753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40220627..40220652hg38UCSC Ensembl
chr17:38376879..38376904hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543599
Supporting Variants
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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