A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4768141



Internal ID20544001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239124651..239124651hg38UCSC Ensembl
chr2:240046347..240046347hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290178
Samples
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4768141
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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