A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509066



Internal ID15476564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69168549..69226419hg38UCSC Ensembl
Outerchr5:68464376..68522246hg19UCSC Ensembl
Outerchr5:68500132..68558002hg18UCSC Ensembl
Outerchr5:68500132..68558002hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383025
hg193025
hg183025
hg173025
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620821
SamplesNA15510
Known GenesCCNB1, CENPH, MRPS36
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)nsv509066
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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