A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510979



Internal ID15827001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27138766..27205923hg38UCSC Ensembl
Outerchr8:26996283..27063440hg19UCSC Ensembl
Outerchr8:27052200..27119357hg18UCSC Ensembl
Outerchr8:27052200..27119357hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3867158
hg1967158
hg1867158
hg1767158
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624324, nssv618609, nssv621607
SamplesCHM, NA15510, NA18994
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)nsv510979
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex3
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer