A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582025



Internal ID16369434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54733543..54746697hg38UCSC Ensembl
Innerchr2:54960680..54973834hg19UCSC Ensembl
Innerchr2:54814184..54827338hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3813155
hg1913155
hg1813155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv910722
Samples
Known GenesEML6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582025
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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