A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620507



Internal ID15473173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69658271..69664271hg38UCSC Ensembl
Outerchr12:70052051..70058051hg19UCSC Ensembl
Outerchr12:68338318..68344318hg18UCSC Ensembl
Outerchr12:68338318..68344318hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv507651
Supporting Variants
SamplesNA15510
Known GenesBEST3
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)nssv620507
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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