A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509451



Internal ID6095948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6201974..6294880hg19UCSC Ensembl
Outerchr12:6072235..6165141hg18UCSC Ensembl
Outerchr12:6072235..6165141hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg193923
hg183923
hg173923
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv623591
SamplesNA18994
Known GenesVWF
Method
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)nsv509451
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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