A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761051



Internal ID20536911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219270696..219270696hg38UCSC Ensembl
chr2:220135418..220135418hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382926
hg192926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274822
Samples
Known GenesTUBA4B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761051
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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