A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698415



Internal ID122081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102934177..102935527hg38UCSC Ensembl
chr14:103400514..103401864hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510942
Supporting Variants
Samples
Known GenesCDC42BPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698415
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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