A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508505



Internal ID15480181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39872575..39933812hg38UCSC Ensembl
Outerchr8:39730094..39791331hg19UCSC Ensembl
Outerchr8:39849251..39910488hg18UCSC Ensembl
Outerchr8:39849251..39910488hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3861238
hg1961238
hg1861238
hg1761238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620009
SamplesNA15510
Known GenesIDO1
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)nsv508505
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