A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693947



Internal ID117613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22987635..22987902hg38UCSC Ensembl
chr14:23456844..23457111hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497185
Supporting Variants
Samples
Known GenesC14orf93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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