A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619403



Internal ID15471298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1282173..1354277hg38UCSC Ensembl
Outerchr5:1282288..1354392hg19UCSC Ensembl
Outerchr5:1335288..1407392hg18UCSC Ensembl
Outerchr5:1335288..1407392hg17UCSC 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 StatusS
Merged Variantsnsv509045
Supporting Variants
SamplesNA10860
Known GenesCLPTM1L, MIR4457, 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)nssv619403
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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