A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509456



Internal ID15476954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12645094..12681838hg38UCSC Ensembl
Outerchr12:12798028..12834772hg19UCSC Ensembl
Outerchr12:12689295..12726039hg18UCSC Ensembl
Outerchr12:12689295..12726039hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg383080
hg193080
hg183080
hg173080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623620, nssv618090, nssv620949, nssv619542
SamplesCHM, NA15510, NA18994, NA10860
Known GenesCREBL2, GPR19
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)nsv509456
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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