A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513646



Internal ID15853067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233562758..233577886hg38UCSC Ensembl
Outerchr2:234471404..234486532hg19UCSC Ensembl
Outerchr2:234134502..234151195hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3815129
hg1915129
hg1816694
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626898
Samples1
Known GenesUSP40
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513646
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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