A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472298



Internal ID21129851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125178401..125182000hg38UCSC Ensembl
chr11:125048297..125051896hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17987864
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472298
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