A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508234



Internal ID15824261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105831020..105846962hg38UCSC Ensembl
Outerchr3:105549864..105565806hg19UCSC Ensembl
Outerchr3:107032554..107048496hg18UCSC Ensembl
Outerchr3:107032554..107048496hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3815943
hg1915943
hg1815943
hg1715943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622467
SamplesNA18994
Known GenesCBLB
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)nsv508234
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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