A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6533223



Internal ID20906584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12171601..12442300hg38UCSC Ensembl
chr18:12171600..12442299hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38270700
hg19270700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186549
Samples
Known GenesAFG3L2, C18orf61, CIDEA, SLMO1, TUBB6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6533223
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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