A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17470352



Internal ID22528242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92154544..92155743hg38UCSC Ensembl
chr14:92620888..92622087hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849432
Supporting Variants
Samples
Known GenesCPSF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17470352
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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