A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693948



Internal ID117614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22988017..22989740hg38UCSC Ensembl
chr14:23457226..23458949hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513797
Supporting Variants
Samples
Known GenesC14orf93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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