A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509075



Internal ID15825101
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
hg384902
hg194902
hg184902
hg174902
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618041, nssv623448, nssv620827, nssv619418
SamplesCHM, NA15510, NA18994, NA10860
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)nsv509075
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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