A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512509



Internal ID15851934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80601281..80602539hg38UCSC Ensembl
Outerchr17:78575081..78576339hg19UCSC Ensembl
Outerchr17:76189676..76190934hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381259
hg191259
hg181259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625111
Samples1
Known GenesRPTOR
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512509
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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