A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601185



Internal ID21549829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44813358..44813428hg38UCSC Ensembl
chr22:45209238..45209308hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138992
SamplesHG00732
Known GenesARHGAP8, PRR5-ARHGAP8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5601185
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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