A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473367



Internal ID21130920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20525357..21140799hg38UCSC Ensembl
chr12:20678291..21293733hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38615443
hg19615443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189826
Samples
Known GenesPDE3A, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473367
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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