A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511779



Internal ID15504518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37119775..37121900hg38UCSC Ensembl
Outerchr2:37346918..37349043hg19UCSC Ensembl
Outerchr2:37200422..37202547hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg382126
hg192126
hg182126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626428
Samples1
Known GenesEIF2AK2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511779
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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