A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv51n172



Internal ID22814425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225950517..225952920hg38UCSC Ensembl
chr1:226138217..226140620hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382404
hg192404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433056, nsv4433055, nsv4433057, nsv4433054, nsv4433058
SamplesMDQ045, BTQ038, MDQ010, BTQ016, SMI018
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv51n172
Frequency
Sample Size15
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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