A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713184



Internal ID136850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41379000..41395980hg38UCSC Ensembl
chr17:39535252..39552232hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816981
hg1916981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530288
Supporting Variants
Samples
Known GenesKRT31, KRT34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713184
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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