A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509141



Internal ID15825167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79876102..79909806hg38UCSC Ensembl
Outerchr6:80585819..80619523hg19UCSC Ensembl
Outerchr6:80642538..80676242hg18UCSC Ensembl
Outerchr6:80642538..80676242hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg384943
hg194943
hg184943
hg174943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618053, nssv623480, nssv619454, nssv620856
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)nsv509141
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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