A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622801



Internal ID15821374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32120125..32226860hg38UCSC Ensembl
Outerchr21:33492437..33599172hg19UCSC Ensembl
Outerchr21:32414308..32521043hg18UCSC Ensembl
Outerchr21:32414308..32521043hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38106736
hg19106736
hg18106736
hg17106736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510794
Supporting Variants
SamplesNA18994
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)nssv622801
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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