A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048815



Internal ID18791346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134322594..134754120hg38UCSC Ensembl
Innerchr11:134192488..134624014hg19UCSC Ensembl
Innerchr11:133697698..134129224hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38431527
hg19431527
hg18431527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1304n100
Supporting Variantsnssv3519627
Samples
Known GenesB3GAT1, GLB1L2, LOC283177
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048815
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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