A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582029



Internal ID16022752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54931906..54977362hg38UCSC Ensembl
Innerchr2:55159043..55204498hg19UCSC Ensembl
Innerchr2:55012547..55058002hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3845457
hg1945456
hg1845456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv910723
Samples
Known GenesEML6, RTN4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582029
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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