A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761593



Internal ID22096087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80072347..80072347hg38UCSC Ensembl
chr8:80984582..80984582hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4449493
Supporting Variants
Samples
Known GenesTPD52
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761593
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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