A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696732



Internal ID120398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64421749..64423852hg38UCSC Ensembl
chr14:64888467..64890570hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382104
hg192104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512424
Supporting Variants
Samples
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696732
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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