A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458409



Internal ID21115962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48919052..48941049hg38UCSC Ensembl
chr12:49312835..49334832hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3821998
hg1921998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196397
Samples
Known GenesARF3, CCDC65, FKBP11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458409
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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