A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510799



Internal ID15478295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42255022..42324525hg38UCSC Ensembl
Outerchr21:43675132..43744635hg19UCSC Ensembl
Outerchr21:42548201..42617704hg18UCSC Ensembl
Outerchr21:42548201..42617704hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3869504
hg1969504
hg1869504
hg1769504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620169
SamplesNA15510
Known GenesABCG1, TFF3
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)nsv510799
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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