A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556525



Internal ID15997248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125690285..125971104hg38UCSC Ensembl
Innerchr11:125560180..125840999hg19UCSC Ensembl
Innerchr11:125065390..125346209hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38280820
hg19280820
hg18280820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784706
Samples
Known GenesCDON, DDX25, HYLS1, PATE1, PATE2, PATE3, PATE4, PUS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556525
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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