A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556567



Internal ID15997290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130070036..130070789hg38UCSC Ensembl
Innerchr11:129939931..129940684hg19UCSC Ensembl
Innerchr11:129445141..129445894hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38754
hg19754
hg18754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2198n54
Supporting Variantsnssv785102
Samples
Known GenesAPLP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556567
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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