A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6110584



Internal ID22019817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43610818..43610818hg38UCSC Ensembl
chr22:44006698..44006698hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17644823
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6110584
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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