A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696872



Internal ID120538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34868934..34868986hg38UCSC Ensembl
chr14:35338140..35338192hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498256
Supporting Variants
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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