A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714967



Internal ID138633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80096142..80101295hg38UCSC Ensembl
chr17:78069941..78075094hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385154
hg195154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523733
Supporting Variants
Samples
Known GenesCCDC40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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