A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5769n223



Internal ID22808737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60411801..60438200hg38UCSC Ensembl
chr5:59707628..59734027hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3826400
hg1926400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6400421, nsv6395653, nsv6401868
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5769n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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