A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623464



Internal ID15822037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178551191..178591153hg38UCSC Ensembl
Outerchr5:177978192..178018154hg19UCSC Ensembl
Outerchr5:177910798..177950760hg18UCSC Ensembl
Outerchr5:177910798..177950760hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385080
hg195080
hg185080
hg175080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509107
Supporting Variants
SamplesNA18994
Known GenesCOL23A1
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)nssv623464
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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