A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508640



Internal ID15480316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69773190..69837690hg38UCSC Ensembl
Outerchr11:69587958..69652458hg19UCSC Ensembl
Outerchr11:69297139..69361395hg18UCSC Ensembl
Outerchr11:69297139..69361395hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3864501
hg1964501
hg1864257
hg1764257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622529
SamplesNA18994
Known GenesFGF3, FGF4
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)nsv508640
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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