A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508511



Internal ID15824538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:65151296..65176999hg38UCSC Ensembl
Outerchr8:66063531..66089234hg19UCSC Ensembl
Outerchr8:66226085..66251788hg18UCSC Ensembl
Outerchr8:66226085..66251788hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3825704
hg1925704
hg1825704
hg1725704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622597
SamplesNA18994
Known GenesLINC00251
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)nsv508511
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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