A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv806n172



Internal ID22815180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2034859..2343278hg38UCSC Ensembl
chr8:1983001..2310000hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38308420
hg19327000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4435464, nsv4435465
SamplesMDQ045, MDQ010, BTQ016
Known GenesMIR7160, MYOM2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv806n172
Frequency
Sample Size15
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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