A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207555



Internal ID20774595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44811744..44817552hg38UCSC Ensembl
chr22:45207624..45213432hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385809
hg195809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6546711
Supporting Variants
Samples
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207555
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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