A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509044



Internal ID15476542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1147636..1265572hg38UCSC Ensembl
Outerchr5:1147751..1265687hg19UCSC Ensembl
Outerchr5:1200751..1318687hg18UCSC Ensembl
Outerchr5:1200751..1318687hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387056
hg197056
hg187056
hg177056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619402
SamplesNA10860
Known GenesSLC6A18, SLC6A19, TERT
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)nsv509044
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