A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509403



Internal ID15825429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44383199..44429709hg38UCSC Ensembl
Outerchr11:44404749..44451259hg19UCSC Ensembl
Outerchr11:44361325..44407835hg18UCSC Ensembl
Outerchr11:44361325..44407835hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383207
hg193207
hg183207
hg173207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619298
SamplesNA10860
Known Genes
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)nsv509403
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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