A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513470



Internal ID15852892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40509081..40510559hg38UCSC Ensembl
Outerchr17:38665333..38666811hg19UCSC Ensembl
Outerchr17:35918859..35920337hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625874
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)nsv513470
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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