A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686850



Internal ID110516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35436176..35436227hg38UCSC Ensembl
chr13:36010313..36010364hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414125
Supporting Variants
Samples
Known GenesNBEA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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