A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463030



Internal ID21120583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43064877..43403698hg38UCSC Ensembl
chr12:43458680..43797501hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38338822
hg19338822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191011
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463030
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