A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508638



Internal ID15480314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66774182..66876163hg38UCSC Ensembl
Outerchr11:66541653..66643634hg19UCSC Ensembl
Outerchr11:66298229..66400210hg18UCSC Ensembl
Outerchr11:66298229..66400210hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38101982
hg19101982
hg18101982
hg17101982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622517
SamplesNA18994
Known GenesC11orf80, LRFN4, PC, RCE1
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)nsv508638
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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