A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511094



Internal ID15827116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231801424..231889469hg38UCSC Ensembl
Outerchr2:232666134..232754179hg19UCSC Ensembl
Outerchr2:232374378..232462423hg18UCSC Ensembl
Outerchr2:232491639..232579684hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3888046
hg1988046
hg1888046
hg1788046
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618641
SamplesCHM
Known GenesCOPS7B
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)nsv511094
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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