A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509475



Internal ID15476973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:108570758..108590278hg38UCSC Ensembl
Outerchr12:108964534..108984054hg19UCSC Ensembl
Outerchr12:107488663..107508183hg18UCSC Ensembl
Outerchr12:107467000..107486520hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384605
hg194605
hg184605
hg174605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620976, nssv623631, nssv618095, nssv619612
SamplesCHM, NA18994, NA15510, NA10860
Known GenesTMEM119
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)nsv509475
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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