A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv191n172



Internal ID22814565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130882165..130882882hg38UCSC Ensembl
chr12:131366710..131367427hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431672, nsv4431673, nsv4431674
SamplesSMI034, BTQ055, NB11
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv191n172
Frequency
Sample Size15
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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