A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707700



Internal ID131366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30571449..30577660hg38UCSC Ensembl
chr16:30582770..30588981hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386212
hg196212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518074
Supporting Variants
Samples
Known GenesZNF688
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003281


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