A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704080



Internal ID127746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88813327..88813378hg38UCSC Ensembl
chr15:89356558..89356609hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421130
Supporting Variants
Samples
Known GenesACAN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704080
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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