A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513480



Internal ID15506216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73405128..73405248hg38UCSC Ensembl
Outerchr17:71401267..71401387hg19UCSC Ensembl
Outerchr17:68912862..68912982hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381174
hg191174
hg181174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625886
Samples1
Known GenesSDK2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513480
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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