A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509168



Internal ID15825194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166268075..166291064hg38UCSC Ensembl
Outerchr6:166681563..166704552hg19UCSC Ensembl
Outerchr6:166601553..166624542hg18UCSC Ensembl
Outerchr6:166651974..166674963hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386301
hg196301
hg186301
hg176301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620869, nssv619463, nssv623492
SamplesNA15510, 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)nsv509168
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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