A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556527



Internal ID16343936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:126172311..126211508hg38UCSC Ensembl
Innerchr11:126042206..126081403hg19UCSC Ensembl
Innerchr11:125547416..125586613hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3839198
hg1939198
hg1839198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784707
Samples
Known GenesRPUSD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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