A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552984



Internal ID15993707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1412088..1417774hg38UCSC Ensembl
Innerchr11:1433318..1439004hg19UCSC Ensembl
Innerchr11:1389894..1395580hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg385687
hg195687
hg185687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv764280, nssv764279
Samples
Known GenesBRSK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552984
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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