A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509111



Internal ID15476609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180577379..180654864hg38UCSC Ensembl
Outerchr5:180004379..180081864hg19UCSC Ensembl
Outerchr5:179936985..180014470hg18UCSC Ensembl
Outerchr5:179936985..180014470hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385982
hg195982
hg185982
hg175982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620841, nssv619439
SamplesNA15510, NA10860
Known GenesCNOT6, FLT4, SCGB3A1
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)nsv509111
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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