A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046731



Internal ID18789262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129228206..129415243hg38UCSC Ensembl
Innerchr11:129098101..129285138hg19UCSC Ensembl
Innerchr11:128603311..128790348hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38187038
hg19187038
hg18187038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3509198
Samples
Known GenesBARX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046731
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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