A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478283



Internal ID21135836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130963080..130964556hg38UCSC Ensembl
chr12:131447625..131449101hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381477
hg191477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178040
Samples
Known GenesGPR133
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478283
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer