A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556609



Internal ID15997332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134381883..134529866hg38UCSC Ensembl
Innerchr11:134251777..134399760hg19UCSC Ensembl
Innerchr11:133756987..133904970hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38147984
hg19147984
hg18147984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2206n54
Supporting Variantsnssv785149
Samples
Known GenesB3GAT1, LOC283177
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556609
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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