A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407253



Internal ID22465123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44821224..44872360hg38UCSC Ensembl
chr22:45217104..45268240hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3851137
hg1951137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961890
Supporting Variants
Samples
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407253
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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