A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693452



Internal ID117118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24633403..24633454hg38UCSC Ensembl
chr14:25102609..25102660hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423190
Supporting Variants
Samples
Known GenesGZMB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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