A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697748



Internal ID121414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67694448..67694487hg38UCSC Ensembl
chr14:68161165..68161204hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539577
Supporting Variants
Samples
Known GenesRDH11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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