A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049972



Internal ID101209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94240666..94358268hg38UCSC Ensembl
chr11:93973832..94091434hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38117603
hg19117603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498303
Supporting Variants
Samples
Known GenesFOLR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049972
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