A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236728



Internal ID20803768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124420455..124471151hg38UCSC Ensembl
chr8:125432696..125483392hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3850697
hg1950697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425225
Supporting Variants
Samples
Known GenesRNF139-AS1, TRMT12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18236728
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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