A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554200



Internal ID15994923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46120545..46121063hg38UCSC Ensembl
Innerchr11:46142096..46142614hg19UCSC Ensembl
Innerchr11:46098672..46099190hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38519
hg19519
hg18519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv772791, nssv772792
Samples
Known GenesPHF21A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554200
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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