A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702446



Internal ID126112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72692707..72692726hg38UCSC Ensembl
chr15:72985048..72985067hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556146
Supporting Variants
Samples
Known GenesBBS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001094


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