A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706869



Internal ID130535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8838000..8846000hg38UCSC Ensembl
chr16:8931857..8939857hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524157
Supporting Variants
Samples
Known GenesPMM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706869
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001266


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