A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619418



Internal ID15817999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90134378..90155568hg38UCSC Ensembl
Outerchr5:89430195..89451385hg19UCSC Ensembl
Outerchr5:89465951..89487141hg18UCSC Ensembl
Outerchr5:89465951..89487141hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385633
hg195633
hg185633
hg175633
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509075
Supporting Variants
SamplesNA10860
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)nssv619418
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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