A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384189



Internal ID22442059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105646232..105860475hg38UCSC Ensembl
chr14:106112569..106326685hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38214244
hg19214117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937464
Supporting Variants
Samples
Known GenesELK2AP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384189
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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