A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv819n172



Internal ID22815193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30746374..30748023hg38UCSC Ensembl
chr8:30603891..30605540hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4435489, nsv4435488
SamplesNB10, NB07
Known GenesUBXN8
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv819n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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