A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509802



Internal ID15477300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45217596..45286376hg38UCSC Ensembl
Outerchr21:46637511..46706291hg19UCSC Ensembl
Outerchr21:45461939..45530719hg18UCSC Ensembl
Outerchr21:45461939..45530719hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385150
hg195150
hg185150
hg175150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623839
SamplesNA18994
Known GenesADARB1, POFUT2
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)nsv509802
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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