A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546711



Internal ID20919921
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 StatusM
Merged Variants
Supporting Variantsnssv18207555
Samples
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546711
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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