A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508661



Internal ID15480337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130576976..130649177hg38UCSC Ensembl
Outerchr11:130446871..130519072hg19UCSC Ensembl
Outerchr11:129952081..130024282hg18UCSC Ensembl
Outerchr11:129952081..130024282hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3872202
hg1972202
hg1872202
hg1772202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620013, nssv622614
SamplesNA15510, NA18994
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)nsv508661
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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