A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059265



Internal ID18801796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21776836..22102744hg38UCSC Ensembl
Innerchr22:22131125..22457154hg19UCSC Ensembl
Innerchr22:20461125..20787154hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38325909
hg19326030
hg18326030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3588813
Samples
Known GenesMAPK1, PPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059265
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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