A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509630



Internal ID15825656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69919473..69996490hg38UCSC Ensembl
Outerchr16:69953376..70030393hg19UCSC Ensembl
Outerchr16:68510877..68587894hg18UCSC Ensembl
Outerchr16:68510877..68587894hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389265
hg199265
hg189265
hg179265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618118, nssv621032, nssv623700
SamplesCHM, NA15510, NA18994
Known GenesCLEC18A, MIR140, PDXDC2P, WWP2
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)nsv509630
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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