A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438313



Internal ID22104492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239124501..239124501hg38UCSC Ensembl
chr2:240046197..240046197hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15764542
Samples
Known GenesHDAC4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438313
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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