A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376433



Internal ID22602102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23300158..23300501hg38UCSC Ensembl
chr14:23769367..23769710hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943065
Supporting Variants
Samples
Known GenesPPP1R3E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376433
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