A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508141



Internal ID15824168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:49263629..49318492hg38UCSC Ensembl
Outerchr2:49490768..49545631hg19UCSC Ensembl
Outerchr2:49344272..49399135hg18UCSC Ensembl
Outerchr2:49402419..49457282hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3854864
hg1954864
hg1854864
hg1754864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622809
SamplesNA18994
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)nsv508141
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