A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510783



Internal ID15826808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:24908556..24961297hg38UCSC Ensembl
Outerchr20:24889192..24941933hg19UCSC Ensembl
Outerchr20:24837192..24889933hg18UCSC Ensembl
Outerchr20:24837192..24889933hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3852742
hg1952742
hg1852742
hg1752742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617442
SamplesCHM
Known GenesCST7
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)nsv510783
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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