A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146590



Internal ID345795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12340335..12346335hg38UCSC Ensembl
chr20:12320983..12326983hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730913
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146590
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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