A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493912



Internal ID21151465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116867113..116870637hg38UCSC Ensembl
chr12:117304918..117308442hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383525
hg193525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187335
Samples
Known GenesHRK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493912
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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