A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552983



Internal ID15993706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1398714..1416873hg38UCSC Ensembl
Innerchr11:1419944..1438103hg19UCSC Ensembl
Innerchr11:1376520..1394679hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3818160
hg1918160
hg1818160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv764278
Samples
Known GenesBRSK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552983
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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