A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547622



Internal ID20920823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42696280..42733368hg38UCSC Ensembl
chr22:43092286..43129374hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3837089
hg1937089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207516
Samples
Known GenesA4GALT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547622
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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