A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv320n223



Internal ID22803288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120185701..120205300hg38UCSC Ensembl
chr1:145067646..145087229hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3819600
hg1919584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6335320, nsv6318354
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv320n223
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