A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554402



Internal ID16341811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50136743..50683379hg38UCSC Ensembl
Innerchr11:50095914..50642550hg19UCSC Ensembl
Innerchr11:50052490..50599126hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38546637
hg19546637
hg18546637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1814n54
Supporting Variantsnssv773977, nssv773976
Samples
Known GenesLOC441601, LOC646813
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554402
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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