A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508558



Internal ID15480234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:105773834..105848806hg38UCSC Ensembl
Outerchr9:108536115..108611087hg19UCSC Ensembl
Outerchr9:107575936..107650908hg18UCSC Ensembl
Outerchr9:105615670..105690642hg17UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3874973
hg1974973
hg1874973
hg1774973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618860
SamplesNA10860
Known GenesTMEM38B
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)nsv508558
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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