A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706854



Internal ID130520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8735038..8912975hg38UCSC Ensembl
chr16:8828895..9006832hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38177938
hg19177938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519815
Supporting Variants
Samples
Known GenesABAT, CARHSP1, PMM2, TMEM186, USP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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