A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485902



Internal ID21143455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121639473..121643388hg38UCSC Ensembl
chr12:122077379..122081294hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383916
hg193916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188767
Samples
Known GenesORAI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485902
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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