A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893760



Internal ID22668825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20172945..20178937hg38UCSC Ensembl
chr6:20173176..20179168hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385993
hg195993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411518
Samples
Known GenesMBOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893760
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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