A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508633



Internal ID15480309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57652112..57792573hg38UCSC Ensembl
Outerchr11:57419585..57560045hg19UCSC Ensembl
Outerchr11:57176161..57316621hg18UCSC Ensembl
Outerchr11:57176161..57316621hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38140462
hg19140461
hg18140461
hg17140461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622485, nssv622483
SamplesNA18994
Known GenesBTBD18, C11orf31, CLP1, CTNND1, MED19, TMX2, TMX2-CTNND1, ZDHHC5
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)nsv508633
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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