A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687635



Internal ID111301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49425176..49425211hg38UCSC Ensembl
chr13:49999312..49999347hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419819
Supporting Variants
Samples
Known GenesCAB39L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.032313


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