A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509493



Internal ID15476991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132092623..132165751hg38UCSC Ensembl
Outerchr12:132577168..132650296hg19UCSC Ensembl
Outerchr12:131143121..131216249hg18UCSC Ensembl
Outerchr12:131243398..131316526hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383381
hg193381
hg183381
hg173381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620983, nssv619622, nssv623640
SamplesNA18994, NA15510, NA10860
Known GenesDDX51, EP400NL, NOC4L
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)nsv509493
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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