A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513685



Internal ID15853106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117995786..118003221hg38UCSC Ensembl
Outerchr8:119008025..119015460hg19UCSC Ensembl
Outerchr8:119077206..119084641hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg387436
hg197436
hg187436
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626937
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)nsv513685
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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