A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709345



Internal ID133011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46920733..46920909hg38UCSC Ensembl
chr16:46954645..46954821hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525386
Supporting Variants
Samples
Known GenesGPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709345
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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