A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687123



Internal ID110789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40924609..40941217hg38UCSC Ensembl
chr13:41498745..41515353hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3816609
hg1916609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507345
Supporting Variants
Samples
Known GenesELF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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