A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463215



Internal ID21120768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45171501..45176100hg38UCSC Ensembl
chr12:45565284..45569883hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179963
Samples
Known GenesPLEKHA8P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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