A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465911



Internal ID21123464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47139123..47143435hg38UCSC Ensembl
chr12:47532906..47537218hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384313
hg194313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001003
Samples
Known GenesPCED1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465911
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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