A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513684



Internal ID15853105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117992636..117995935hg38UCSC Ensembl
Outerchr8:119004875..119008174hg19UCSC Ensembl
Outerchr8:119074056..119077355hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg383300
hg193300
hg183300
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626936
Samples1
Known GenesEXT1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513684
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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