A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509045



Internal ID15476543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1282173..1455603hg38UCSC Ensembl
Outerchr5:1282288..1455718hg19UCSC Ensembl
Outerchr5:1335288..1508718hg18UCSC Ensembl
Outerchr5:1335288..1508718hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386045
hg196045
hg186045
hg176045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619403, nssv619404, nssv620806
SamplesNA15510, NA10860
Known GenesCLPTM1L, MIR4457, SLC6A3, TERT
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)nsv509045
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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