A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv438n223



Internal ID22803406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169941401..169958500hg38UCSC Ensembl
chr1:169910542..169927641hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3817100
hg1917100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6316287, nsv6317296
Samples
Known GenesKIFAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv438n223
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