A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697227



Internal ID120893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91066998..91076106hg38UCSC Ensembl
chr14:91533342..91542450hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg389109
hg199109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498096
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697227
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