A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508619



Internal ID15480295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:27006947..27089187hg38UCSC Ensembl
Outerchr11:27028494..27110734hg19UCSC Ensembl
Outerchr11:26985070..27067310hg18UCSC Ensembl
Outerchr11:26985070..27067310hg17UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg3882241
hg1982241
hg1882241
hg1782241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619033
SamplesNA10860
Known GenesBBOX1
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)nsv508619
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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