A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686468



Internal ID110134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28184913..28184964hg38UCSC Ensembl
chr13:28759050..28759101hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553987
Supporting Variants
Samples
Known GenesPAN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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