A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6405276



Internal ID21062829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149890166..149894863hg38UCSC Ensembl
chr5:149269729..149274426hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384698
hg194698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213282
Samples
Known GenesPDE6A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6405276
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