A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518423



Internal ID20891784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32053233..32055922hg38UCSC Ensembl
chr18:29633196..29635885hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382690
hg192690
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193206
Samples
Known GenesRNF125
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518423
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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