A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449141



Internal ID22115318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54125294..54125294hg38UCSC Ensembl
chr8:55037854..55037854hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762377
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449141
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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