A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697977



Internal ID121643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76766067..76766118hg38UCSC Ensembl
chr14:77232410..77232461hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422645
Supporting Variants
Samples
Known GenesVASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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