A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686630



Internal ID110296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31044791..31044842hg38UCSC Ensembl
chr13:31618928..31618979hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428726
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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