A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508603



Internal ID15480279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:101104013..101160167hg38UCSC Ensembl
Outerchr10:102863770..102919924hg19UCSC Ensembl
Outerchr10:102853760..102909914hg18UCSC Ensembl
Outerchr10:102853760..102909914hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3856155
hg1956155
hg1856155
hg1756155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622745
SamplesNA18994
Known GenesTLX1, TLX1NB
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)nsv508603
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