A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508635



Internal ID15480311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60422385..60487633hg38UCSC Ensembl
Outerchr11:60189858..60255106hg19UCSC Ensembl
Outerchr11:59946434..60011682hg18UCSC Ensembl
Outerchr11:59946434..60011682hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3865249
hg1965249
hg1865249
hg1765249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622503
SamplesNA18994
Known GenesMS4A1, MS4A5
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)nsv508635
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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