A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511839



Internal ID15851264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895268..222898470hg38UCSC Ensembl
Outerchr2:223759986..223763188hg19UCSC Ensembl
Outerchr2:223468230..223471432hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383203
hg193203
hg183203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626495
Samples1
Known GenesACSL3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511839
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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