A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621209



Internal ID15820559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:75303331..75437015hg38UCSC Ensembl
Outerchr3:75352482..75486166hg19UCSC Ensembl
Outerchr3:75435172..75568856hg18UCSC Ensembl
Outerchr3:75435172..75568856hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3817486
hg1917486
hg1817486
hg1717486
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508933
Supporting Variants
SamplesNA15510
Known GenesFAM86DP
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)nssv621209
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