A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507651



Internal ID15479330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69658349..69664349hg38UCSC Ensembl
Outerchr12:70052129..70058129hg19UCSC Ensembl
Outerchr12:68338396..68344396hg18UCSC Ensembl
Outerchr12:68338396..68344396hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617834, nssv623113, nssv620507, nssv619077
SamplesCHM, NA15510, NA18994, NA10860
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)nsv507651
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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