A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484806



Internal ID21142359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121478803..121490798hg38UCSC Ensembl
chr12:121916606..121928601hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3811996
hg1911996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192932
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484806
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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