A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463393



Internal ID21120946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11327552..11368038hg38UCSC Ensembl
chr12:11480486..11520972hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3840487
hg1940487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1410n223
Supporting Variantsnssv18186095
Samples
Known GenesPRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463393
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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