A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5584n223



Internal ID22808552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:185276..538582hg38UCSC Ensembl
chr5:185391..538697hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38353307
hg19353307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6391656, nsv6387377
Samples
Known GenesAHRR, C5orf55, CCDC127, EXOC3, LOC102467073, LRRC14B, MIR4456, PDCD6, PLEKHG4B, PP7080, SDHA, SLC9A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5584n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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