A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508650



Internal ID15824677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93875844..93980410hg38UCSC Ensembl
Outerchr11:93609010..93713576hg19UCSC Ensembl
Outerchr11:93248658..93353224hg18UCSC Ensembl
Outerchr11:93248658..93353224hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38104567
hg19104567
hg18104567
hg17104567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618782, nssv622579
SamplesNA18994, NA10860
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)nsv508650
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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