A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539577



Internal ID314504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67694448..67694487hg38UCSC Ensembl
chr14:68161165..68161204hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697748
Samples
Known GenesRDH11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539577
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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