A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509455



Internal ID15476953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11280148..11373631hg38UCSC Ensembl
Outerchr12:11433082..11526565hg19UCSC Ensembl
Outerchr12:11324349..11417832hg18UCSC Ensembl
Outerchr12:11324349..11417832hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383195
hg193195
hg183195
hg173195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623615
SamplesNA18994
Known GenesPRB1, PRB4
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)nsv509455
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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