A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510592



Internal ID6097328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117618872..117684713hg19UCSC Ensembl
Outerchr12:116103255..116169096hg18UCSC Ensembl
Outerchr12:116081592..116147433hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg195174
hg185174
hg175174
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv617402
SamplesCHM
Known GenesFBXO21, NOS1
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)nsv510592
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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