A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697245



Internal ID120911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91412198..91412198hg38UCSC Ensembl
chr14:91878542..91878542hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538129
Supporting Variants
Samples
Known GenesCCDC88C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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