A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696730



Internal ID120396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64381512..64397019hg38UCSC Ensembl
chr14:64848230..64863737hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3815508
hg1915508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495864
Supporting Variants
Samples
Known GenesMIR548AZ, MTHFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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