A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234046



Internal ID20801087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80060292..80074402hg38UCSC Ensembl
chr8:80972527..80986637hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3814111
hg1914111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422485
Supporting Variants
Samples
Known GenesTPD52
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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