A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553914



Internal ID15994637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:27171168..27474614hg38UCSC Ensembl
Innerchr11:27192715..27496161hg19UCSC Ensembl
Innerchr11:27149291..27452737hg18UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38303447
hg19303447
hg18303447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174783
SamplesHGDP00068
Known GenesCCDC34, LGR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553914
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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