A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620840



Internal ID15820192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177801240..177870660hg38UCSC Ensembl
Outerchr5:177228241..177297661hg19UCSC Ensembl
Outerchr5:177160847..177230267hg18UCSC Ensembl
Outerchr5:177160847..177230267hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383659
hg193659
hg183659
hg173659
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509104
Supporting Variants
SamplesNA15510
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)nssv620840
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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