A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437980



Internal ID22104161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240318545..240318545hg38UCSC Ensembl
chr2:241257962..241257962hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761317
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437980
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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