A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509082



Internal ID15825108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:110137037..110163181hg38UCSC Ensembl
Outerchr5:109472738..109498882hg19UCSC Ensembl
Outerchr5:109500637..109526781hg18UCSC Ensembl
Outerchr5:109500637..109526781hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385327
hg195327
hg185327
hg175327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623452, nssv620830, nssv618043
SamplesCHM, NA15510, NA18994
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)nsv509082
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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