A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706191



Internal ID129857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20503131..20706186hg38UCSC Ensembl
chr16:20514453..20717508hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38203056
hg19203056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517596
Supporting Variants
Samples
Known GenesACSM1, ACSM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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