A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511091



Internal ID15827113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190606095..190626405hg38UCSC Ensembl
Outerchr2:191470821..191491131hg19UCSC Ensembl
Outerchr2:191179066..191199376hg18UCSC Ensembl
Outerchr2:191296327..191316637hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3820311
hg1920311
hg1820311
hg1720311
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618640
SamplesCHM
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)nsv511091
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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