A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508662



Internal ID15480338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133155733..133244667hg38UCSC Ensembl
Outerchr11:133025628..133114562hg19UCSC Ensembl
Outerchr11:132530838..132619772hg18UCSC Ensembl
Outerchr11:132530838..132619772hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3888935
hg1988935
hg1888935
hg1788935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618826
SamplesNA10860
Known GenesOPCML
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)nsv508662
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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