A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509773



Internal ID15825799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47808772..47999560hg38UCSC Ensembl
Outerchr20:46437516..46628304hg19UCSC Ensembl
Outerchr20:45870923..46061711hg18UCSC Ensembl
Outerchr20:45870923..46061711hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387804
hg197804
hg187804
hg177804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621127, nssv621126, nssv619844, nssv623829, nssv623828, nssv619845
SamplesNA15510, NA18994, NA10860
Known Genes
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)nsv509773
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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