A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513683



Internal ID15853104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47303501..47317337hg38UCSC Ensembl
Outerchr8:48213882..48229885hg19UCSC Ensembl
Outerchr8:48376435..48392438hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3813837
hg1916004
hg1816004
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626935
Samples1
Known GenesSPIDR
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513683
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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