A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694540



Internal ID118206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96182534..96182584hg38UCSC Ensembl
chr13:96834788..96834838hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560016
Supporting Variants
Samples
Known GenesHS6ST3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011547


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