A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513046



Internal ID15505782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47449090..47452201hg38UCSC Ensembl
Outerchr3:47490580..47493691hg19UCSC Ensembl
Outerchr3:47465584..47468695hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383112
hg193112
hg183112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626529
Samples1
Known GenesSCAP
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513046
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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