A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687596



Internal ID111262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48578964..48579039hg38UCSC Ensembl
chr13:49153100..49153175hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510192
Supporting Variants
Samples
Known GenesLINC00462
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687596
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer