A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698380



Internal ID122046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102633367..102633406hg38UCSC Ensembl
chr14:103099704..103099743hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545370
Supporting Variants
Samples
Known GenesRCOR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698380
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