A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555347



Internal ID328506
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 StatusM
Merged Variants
Supporting Variantsnssv17696312
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)nsv5555347
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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