A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513017



Internal ID15505753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:104035595..104036242hg38UCSC Ensembl
Outerchr10:105795353..105796000hg19UCSC Ensembl
Outerchr10:105785343..105785990hg18UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38864
hg19864
hg18864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625675
Samples1
Known GenesCOL17A1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513017
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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