A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696312



Internal ID119978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54915499..55646544hg38UCSC Ensembl
chr14:55382217..56113262hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38731046
hg19731046
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555347
Supporting Variants
Samples
Known GenesATG14, DLGAP5, FBXO34, KTN1, KTN1-AS1, LGALS3, MAPK1IP1L, SOCS4, TBPL2, WDHD1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696312
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.242585


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