A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479489



Internal ID21137042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115887645..115972138hg38UCSC Ensembl
chr12:116325450..116409943hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3884494
hg1984494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188025
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479489
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