A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707608



Internal ID131274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29560486..29586743hg38UCSC Ensembl
chr16:29571807..29598064hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3826258
hg1926258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520185
Supporting Variants
Samples
Known GenesLOC440354
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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