A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512380



Internal ID15851805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104807451..104810578hg38UCSC Ensembl
Outerchr14:105273788..105276915hg19UCSC Ensembl
Outerchr14:104344833..104347960hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383128
hg193128
hg183128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624968
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)nsv512380
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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