A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693463



Internal ID117129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24860874..24860930hg38UCSC Ensembl
chr14:25330080..25330136hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510065
Supporting Variants
Samples
Known GenesSTXBP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693463
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.008273


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