A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510905



Internal ID15478399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111900445..111915211hg38UCSC Ensembl
Outerchr6:112221648..112236414hg19UCSC Ensembl
Outerchr6:112328341..112343107hg18UCSC Ensembl
Outerchr6:112328341..112343107hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3814767
hg1914767
hg1814767
hg1714767
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618691
SamplesCHM
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)nsv510905
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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