A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509293



Internal ID15825319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6366939..6391154hg38UCSC Ensembl
Outerchr9:6366939..6391154hg19UCSC Ensembl
Outerchr9:6356939..6381154hg18UCSC Ensembl
Outerchr9:6356939..6381154hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg383993
hg193993
hg183993
hg173993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618073, nssv623554, nssv620918, nssv619547
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)nsv509293
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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