A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696193



Internal ID119859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51869713..51875713hg38UCSC Ensembl
chr14:52336431..52342431hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512469
Supporting Variants
Samples
Known GenesGNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696193
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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