A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv58n172



Internal ID22814432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248574700..248635099hg38UCSC Ensembl
chr1:248738001..248798400hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3860400
hg1960400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433102, nsv4433103
SamplesMDQ010, MDQ025
Known GenesOR2T10, OR2T11, OR2T34
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv58n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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