A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445147



Internal ID22111327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54203743..54203743hg38UCSC Ensembl
chr14:54670461..54670461hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762527
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445147
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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