A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696702



Internal ID120368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50162130..50165771hg38UCSC Ensembl
chr14:50628848..50632489hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383642
hg193642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498501
Supporting Variants
Samples
Known GenesSOS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696702
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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