A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687626



Internal ID111292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49314432..49317141hg38UCSC Ensembl
chr13:49888568..49891277hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382710
hg192710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505429
Supporting Variants
Samples
Known GenesCAB39L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687626
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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