A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510789



Internal ID15826814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18605056..18637374hg38UCSC Ensembl
Outerchr21:19977374..20009692hg19UCSC Ensembl
Outerchr21:18899245..18931563hg18UCSC Ensembl
Outerchr21:18899245..18931563hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3832319
hg1932319
hg1832319
hg1732319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619013
SamplesNA10860
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)nsv510789
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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