A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488534



Internal ID21146087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41514119..41646827hg38UCSC Ensembl
chr14:41983322..42116030hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38132709
hg19132709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192776
Samples
Known GenesLRFN5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488534
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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