A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513590



Internal ID15853012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:37226812..37226876hg38UCSC Ensembl
Outerchr22:37622852..37622916hg19UCSC Ensembl
Outerchr22:35952798..35952862hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38873
hg19873
hg18873
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626842
Samples1
Known GenesRAC2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513590
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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