A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509794



Internal ID15477292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33298158..33324159hg38UCSC Ensembl
Outerchr21:34670463..34696464hg19UCSC Ensembl
Outerchr21:33592333..33618334hg18UCSC Ensembl
Outerchr21:33592333..33618334hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg385087
hg195087
hg185087
hg175087
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623835, nssv619858
SamplesNA18994, 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)nsv509794
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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