A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512487



Internal ID6104614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40489856..40490927hg19UCSC Ensembl
Outerchr17:37743382..37744453hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv625086
Samples1
Known GenesSTAT3
MethodRead-depth_analysis
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformIllumina Genome Analyzer
Comments
ReferenceArlt et al 2011
Pubmed ID21212237
Accession Number(s)nsv512487
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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