A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513075



Internal ID15505811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134952934..134955841hg38UCSC Ensembl
Outerchr3:134671776..134674683hg19UCSC Ensembl
Outerchr3:136154466..136157373hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg382908
hg192908
hg182908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626561
Samples1
Known GenesEPHB1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513075
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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