A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510948



Internal ID15826970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35936784..35959219hg38UCSC Ensembl
Outerchr13:36510921..36533356hg19UCSC Ensembl
Outerchr13:35408921..35431356hg18UCSC Ensembl
Outerchr13:35408921..35431356hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3822436
hg1922436
hg1822436
hg1722436
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622398
SamplesNA10860
Known GenesDCLK1, MIR548F5
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)nsv510948
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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