A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705892



Internal ID129558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53187445..53187689hg38UCSC Ensembl
chr16:53221357..53221601hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527704
Supporting Variants
Samples
Known GenesCHD9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705892
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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