A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509387



Internal ID15825413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:7730150..7845746hg38UCSC Ensembl
Outerchr11:7751697..7867293hg19UCSC Ensembl
Outerchr11:7708273..7823869hg18UCSC Ensembl
Outerchr11:7708273..7823869hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg384369
hg194369
hg184369
hg174369
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621139, nssv623813, nssv619857
SamplesNA15510, NA18994, NA10860
Known GenesOR5P2, OR5P3
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509387
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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