A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508657



Internal ID15824684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120020869..120100504hg38UCSC Ensembl
Outerchr11:119891578..119971212hg19UCSC Ensembl
Outerchr11:119396788..119476422hg18UCSC Ensembl
Outerchr11:119396788..119476422hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3879636
hg1979635
hg1879635
hg1779635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620007
SamplesNA15510
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)nsv508657
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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