A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509165



Internal ID15476663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163295067..163371517hg38UCSC Ensembl
Outerchr6:163716099..163792549hg19UCSC Ensembl
Outerchr6:163636089..163712539hg18UCSC Ensembl
Outerchr6:163686510..163762960hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg383014
hg193014
hg183014
hg173014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619462
SamplesNA10860
Known GenesDKFZp451B082, PACRG, PACRG-AS1
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)nsv509165
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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