A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217087



Internal ID20784127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149592364..149598479hg38UCSC Ensembl
chr6:149913500..149919615hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386116
hg196116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6617399
Supporting Variants
Samples
Known GenesKATNA1, RPS18P9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217087
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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