A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542967



Internal ID20916218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42831179..42832423hg38UCSC Ensembl
chr22:43227185..43228429hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381245
hg191245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074358
Samples
Known GenesARFGAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542967
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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