A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513483



Internal ID15506219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77356591..77356918hg38UCSC Ensembl
Outerchr17:75352673..75353000hg19UCSC Ensembl
Outerchr17:72864268..72864595hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38863
hg19863
hg18863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625890
Samples1
Known GenesSEPT9
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513483
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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