A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512487



Internal ID8819791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42337838..42338909hg38UCSC Ensembl
Outerchr17:40489856..40490927hg19UCSC Ensembl
Outerchr17:37743382..37744453hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381072
hg191072
hg181072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625086
Samples1
Known GenesSTAT3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
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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