A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513579



Internal ID15853001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45999979..46000046hg38UCSC Ensembl
Outerchr21:47419893..47419960hg19UCSC Ensembl
Outerchr21:46244321..46244388hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38844
hg19844
hg18844
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626831
Samples1
Known GenesCOL6A1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513579
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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