A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686679



Internal ID110345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31779851..31779887hg38UCSC Ensembl
chr13:32353988..32354024hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545849
Supporting Variants
Samples
Known GenesRXFP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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