A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513592



Internal ID15506328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43927308..43928728hg38UCSC Ensembl
Outerchr22:44323188..44324608hg19UCSC Ensembl
Outerchr22:42654521..42655941hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381067
hg191067
hg181067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626844
Samples1
Known GenesPNPLA3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513592
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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