A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380513



Internal ID22438383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64421749..64423851hg38UCSC Ensembl
chr14:64888467..64890569hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382103
hg192103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941366
Supporting Variants
Samples
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380513
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