A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582028



Internal ID16369437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54846291..54863892hg38UCSC Ensembl
Innerchr2:55073428..55091029hg19UCSC Ensembl
Innerchr2:54926932..54944533hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3817602
hg1917602
hg1817602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151102
Samples1780862410_A
Known GenesEML6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582028
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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