A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512534



Internal ID15851959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54426281..54430697hg38UCSC Ensembl
Outerchr18:51952651..51957067hg19UCSC Ensembl
Outerchr18:50206649..50211065hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384417
hg194417
hg184417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625138
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512534
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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