A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050014



Internal ID101243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94944680..94944731hg38UCSC Ensembl
chr11:94677845..94677896hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554303
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003762


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