A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687127



Internal ID110793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40996205..40996211hg38UCSC Ensembl
chr13:41570341..41570347hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428111
Supporting Variants
Samples
Known GenesELF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006088


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