A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058230



Internal ID21967464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207896606..207896606hg38UCSC Ensembl
chr2:208761330..208761330hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524555
Samples
Known GenesPLEKHM3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6058230
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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