A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509415



Internal ID15476913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61262472..61315210hg38UCSC Ensembl
Outerchr11:61029944..61082682hg19UCSC Ensembl
Outerchr11:60786520..60839258hg18UCSC Ensembl
Outerchr11:60786520..60839258hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg385193
hg195193
hg185193
hg175193
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619373
SamplesNA10860
Known GenesDDB1, VWCE
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)nsv509415
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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