A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508642



Internal ID15824669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:84449743..84544064hg38UCSC Ensembl
Outerchr11:84160786..84255107hg19UCSC Ensembl
Outerchr11:83838434..83932755hg18UCSC Ensembl
Outerchr11:83838434..83932755hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3894322
hg1994322
hg1894322
hg1794322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619964
SamplesNA15510
Known GenesDLG2
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)nsv508642
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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