A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462552



Internal ID21120105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78778286..78786588hg38UCSC Ensembl
chr12:79172066..79180368hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388303
hg198303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178333
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462552
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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