A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509793



Internal ID15477291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32773684..32848704hg38UCSC Ensembl
Outerchr21:34145995..34221014hg19UCSC Ensembl
Outerchr21:33067866..33142884hg18UCSC Ensembl
Outerchr21:33067866..33142884hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg383717
hg193717
hg183717
hg173717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621136
SamplesNA15510
Known GenesC21orf49, C21orf62
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)nsv509793
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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