A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383946



Internal ID22441816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105589831..105860284hg38UCSC Ensembl
chr14:106056168..106326494hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38270454
hg19270327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929899
Supporting Variants
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383946
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