A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048533



Internal ID18791064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130582563..130752709hg38UCSC Ensembl
Innerchr11:130452458..130622604hg19UCSC Ensembl
Innerchr11:129957668..130127814hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38170147
hg19170147
hg18170147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518208
Samples
Known GenesC11orf44, MIR8052
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048533
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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