A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695448



Internal ID119114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28786706..28786803hg38UCSC Ensembl
chr14:29255912..29256009hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497752
Supporting Variants
Samples
Known GenesC14orf23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer