A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508915



Internal ID6098701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46855839..46954963hg19UCSC Ensembl
Outerchr3:46830843..46929967hg18UCSC Ensembl
Outerchr3:46830843..46929967hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg193157
hg183157
hg173157
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv619322
SamplesNA10860
Known GenesMYL3, PRSS42, PTH1R
Method
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)nsv508915
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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