A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693950



Internal ID117616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22996268..22998426hg38UCSC Ensembl
chr14:23465477..23467635hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505872
Supporting Variants
Samples
Known GenesC14orf93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693950
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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