A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713880



Internal ID137546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59583980..59599990hg38UCSC Ensembl
chr17:57661341..57677351hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3816011
hg1916011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529723
Supporting Variants
Samples
Known GenesDHX40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005834


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