A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510778



Internal ID15826803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:843492..905972hg38UCSC Ensembl
Outerchr20:824135..886615hg19UCSC Ensembl
Outerchr20:772135..834615hg18UCSC Ensembl
Outerchr20:772135..834615hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3862481
hg1962481
hg1862481
hg1762481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620161
SamplesNA15510
Known GenesANGPT4, FAM110A
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)nsv510778
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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