A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511090



Internal ID15827112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178160742..178212269hg38UCSC Ensembl
Outerchr2:179025469..179076996hg19UCSC Ensembl
Outerchr2:178733715..178785242hg18UCSC Ensembl
Outerchr2:178850976..178902503hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3851528
hg1951528
hg1851528
hg1751528
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621663
SamplesNA15510
Known GenesOSBPL6
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)nsv511090
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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