A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553289



Internal ID20926398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50356085..50370331hg38UCSC Ensembl
chr22:50794514..50808760hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3814247
hg1914247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074607
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553289
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