A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508643



Internal ID15480319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86277535..86336677hg38UCSC Ensembl
Outerchr11:85988577..86047719hg19UCSC Ensembl
Outerchr11:85666225..85725367hg18UCSC Ensembl
Outerchr11:85666225..85725367hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3859143
hg1959143
hg1859143
hg1759143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618772
SamplesNA10860
Known GenesC11orf73, EED, MIR6755
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)nsv508643
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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