A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv130n223



Internal ID22803098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25223901..25291700hg38UCSC Ensembl
chr1:25550392..25618191hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3867800
hg1967800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6325001, nsv6321897
Samples
Known GenesC1orf63, RHD, SYF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv130n223
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