A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv322n223



Internal ID22803290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121429201..121604200hg38UCSC Ensembl
chr1:121171061..121345998hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38175000
hg19174938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6331482, nsv6333636, nsv6322643
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv322n223
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