A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043973



Internal ID97049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:42873740..42881289hg38UCSC Ensembl
chr11:42895290..42902839hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg387550
hg197550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143120
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043973
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