A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511010



Internal ID15478504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132691764..132704343hg38UCSC Ensembl
Outerchr11:132561659..132574238hg19UCSC Ensembl
Outerchr11:132066869..132079448hg18UCSC Ensembl
Outerchr11:132066869..132079448hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3812580
hg1912580
hg1812580
hg1712580
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624326
SamplesNA18994
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)nsv511010
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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