A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509466



Internal ID15825492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49266854..49266854hg38UCSC Ensembl
Outerchr12:49660637..49660637hg19UCSC Ensembl
Outerchr12:47946904..47946904hg18UCSC Ensembl
Outerchr12:47946904..47946904hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383946
hg193946
hg183946
hg173946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620967
SamplesNA15510
Known GenesTUBA1C
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)nsv509466
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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