A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508658



Internal ID15824685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:122523345..122595745hg38UCSC Ensembl
Outerchr11:122394053..122466453hg19UCSC Ensembl
Outerchr11:121899263..121971663hg18UCSC Ensembl
Outerchr11:121899263..121971663hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3872401
hg1972401
hg1872401
hg1772401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622601
SamplesNA18994
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)nsv508658
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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