A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509766



Internal ID15477264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32541924..32672600hg38UCSC Ensembl
Outerchr20:31129726..31260402hg19UCSC Ensembl
Outerchr20:30593387..30724063hg18UCSC Ensembl
Outerchr20:30593387..30724063hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3813815
hg1913815
hg1813815
hg1713815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623825
SamplesNA18994
Known GenesC20orf112, C20orf203, LOC149950
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)nsv509766
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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