A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060020



Internal ID18802551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36225663..36319792hg38UCSC Ensembl
Innerchr22:36621709..36715837hg19UCSC Ensembl
Innerchr22:34951655..35045783hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3894130
hg1994129
hg1894129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4564n100
Supporting Variantsnssv3600865, nssv3600866
Samples
Known GenesAPOL1, APOL2, MIR6819, MYH9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060020
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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