A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509787



Internal ID15825813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14392343..14439822hg38UCSC Ensembl
Outerchr21:15764664..15812143hg19UCSC Ensembl
Outerchr21:14686535..14734014hg18UCSC Ensembl
Outerchr21:14686535..14734014hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg389105
hg199105
hg189105
hg179105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621132, nssv623832, nssv619853, nssv618139
SamplesCHM, NA15510, NA18994, NA10860
Known Genes
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)nsv509787
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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