A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559482



Internal ID332515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70247305..70457854hg38UCSC Ensembl
chr14:70714022..70924571hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38210550
hg19210550
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697876
Samples
Known GenesADAM21, ADAM21P1, COX16, SYNJ2BP, SYNJ2BP-COX16
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559482
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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