A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693965



Internal ID117631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23251662..23256936hg38UCSC Ensembl
chr14:23720871..23726145hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg385275
hg195275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505271
Supporting Variants
Samples
Known GenesC14orf164
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693965
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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