A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508982



Internal ID15476480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197446173..197598047hg38UCSC Ensembl
Outerchr3:197173044..197324918hg19UCSC Ensembl
Outerchr3:198657441..198809315hg18UCSC Ensembl
Outerchr3:198661354..198813228hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384949
hg194949
hg184949
hg174949
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619354
SamplesNA10860
Known GenesBDH1
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)nsv508982
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