A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513047



Internal ID15852469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49937227..49939832hg38UCSC Ensembl
Outerchr3:49974660..49977265hg19UCSC Ensembl
Outerchr3:49949664..49952269hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382606
hg192606
hg182606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626530
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)nsv513047
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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