A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473672



Internal ID21131225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10945998..10947997hg38UCSC Ensembl
chr12:11098597..11100596hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177328
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473672
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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