A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513045



Internal ID15505781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46753306..46810184hg38UCSC Ensembl
Outerchr3:46794796..46851674hg19UCSC Ensembl
Outerchr3:46769800..46826678hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3856879
hg1956879
hg1856879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv31n50
Supporting Variantsnssv626528
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)nsv513045
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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