A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232534



Internal ID20799574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138813253..138814934hg38UCSC Ensembl
chr8:139825496..139827177hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381682
hg191682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427862
Supporting Variants
Samples
Known GenesCOL22A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232534
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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