A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709308



Internal ID132974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46384000..46579000hg38UCSC Ensembl
chr16:46417912..46612912hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38195001
hg19195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532129
Supporting Variants
Samples
Known GenesANKRD26P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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