A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509443



Internal ID15476941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117255121..117293441hg38UCSC Ensembl
Outerchr11:117125837..117164157hg19UCSC Ensembl
Outerchr11:116631047..116669367hg18UCSC Ensembl
Outerchr11:116631047..116669367hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383063
hg193063
hg183063
hg173063
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619478
SamplesNA10860
Known GenesBACE1, BACE1-AS, RNF214
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)nsv509443
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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