A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622483



Internal ID15474370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57652112..57721329hg38UCSC Ensembl
Outerchr11:57419585..57488801hg19UCSC Ensembl
Outerchr11:57176161..57245377hg18UCSC Ensembl
Outerchr11:57176161..57245377hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3869218
hg1969217
hg1869217
hg1769217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508633
Supporting Variants
SamplesNA18994
Known GenesCLP1, 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)nssv622483
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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