A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056754



Internal ID21965988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43784558..43784621hg38UCSC Ensembl
chr22:44180438..44180501hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17638617
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056754
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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