A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705379



Internal ID129045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2895275..2895357hg38UCSC Ensembl
chr16:2945276..2945358hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520672
Supporting Variants
Samples
Known GenesFLYWCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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