A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522931



Internal ID6026133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36616445..36714635hg19UCSC Ensembl
Innerchr22:34946391..35044581hg18UCSC Ensembl
Innerchr22:34940945..35039135hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv698594
Samples
Known GenesAPOL1, APOL2, MYH9
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv522931
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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