A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687210



Internal ID110876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42274663..42274735hg38UCSC Ensembl
chr13:42848799..42848871hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497439
Supporting Variants
Samples
Known GenesAKAP11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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