A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510785



Internal ID15478281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34202450..34247215hg38UCSC Ensembl
Outerchr20:32790256..32835021hg19UCSC Ensembl
Outerchr20:32253917..32298682hg18UCSC Ensembl
Outerchr20:32253917..32298682hg17UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3844766
hg1944766
hg1844766
hg1744766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619008, nssv622798
SamplesNA18994, 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)nsv510785
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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