A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513481



Internal ID15852903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75431018..75432207hg38UCSC Ensembl
Outerchr17:73427099..73428288hg19UCSC Ensembl
Outerchr17:70938694..70939883hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38947
hg19947
hg18947
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625887
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)nsv513481
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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