A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618035



Internal ID15470504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:59249..86835hg38UCSC Ensembl
Outerchr5:59364..86950hg19UCSC Ensembl
Outerchr5:112364..139950hg18UCSC Ensembl
Outerchr5:112364..139950hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383216
hg193216
hg183216
hg173216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509040
Supporting Variants
SamplesCHM
Known Genes
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)nssv618035
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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