A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6055746



Internal ID21964979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219270701..219270701hg38UCSC Ensembl
chr2:220135423..220135423hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382950
hg192950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518961
Samples
Known GenesTUBA4B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6055746
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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