A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554139



Internal ID20927246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32409910..32449827hg38UCSC Ensembl
chr22:32805897..32845814hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3839918
hg1939918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205031
Samples
Known GenesBPIFC, RTCB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554139
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