A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509467



Internal ID15476965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54173617..54255598hg38UCSC Ensembl
Outerchr12:54567401..54649382hg19UCSC Ensembl
Outerchr12:52853668..52935649hg18UCSC Ensembl
Outerchr12:52853668..52935649hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383851
hg193851
hg183851
hg173851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620968
SamplesNA15510
Known GenesCBX5, MIR3198-2, SMUG1
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)nsv509467
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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