A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510997



Internal ID15827019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5501385..5554145hg38UCSC Ensembl
Outerchr11:5522615..5575375hg19UCSC Ensembl
Outerchr11:5479191..5531951hg18UCSC Ensembl
Outerchr11:5479191..5531951hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3852761
hg1952761
hg1852761
hg1752761
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622433
SamplesNA10860
Known GenesOR51B5, OR52H1, UBQLN3, UBQLNL
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)nsv510997
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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