A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556483



Internal ID15997206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:123393934..123603700hg38UCSC Ensembl
Innerchr11:123264642..123474408hg19UCSC Ensembl
Innerchr11:122769852..122979618hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38209767
hg19209767
hg18209767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784645
Samples
Known GenesGRAMD1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556483
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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