A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619008



Internal ID15472126
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 StatusS
Merged Variantsnsv510785
Supporting Variants
SamplesNA10860
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)nssv619008
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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