A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058653



Internal ID18801184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40920629..41094273hg38UCSC Ensembl
Innerchr22:41316633..41490277hg19UCSC Ensembl
Innerchr22:39646579..39820223hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38173645
hg19173645
hg18173645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3590807
Samples
Known GenesEP300, MIR1281, RBX1, XPNPEP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058653
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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