A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696045



Internal ID119711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72563377..72563377hg38UCSC Ensembl
chr14:73030085..73030085hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552770
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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