A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457212



Internal ID21114765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48825838..48848761hg38UCSC Ensembl
chr12:49219621..49242544hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3822924
hg1922924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179627
Samples
Known GenesCACNB3, DDX23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457212
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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