A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465527



Internal ID21123080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47072885..47079716hg38UCSC Ensembl
chr12:47466668..47473499hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg386832
hg196832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179785
Samples
Known GenesAMIGO2, PCED1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465527
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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