A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623837



Internal ID15822410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:34260610..34362470hg38UCSC Ensembl
Outerchr21:35632910..35734769hg19UCSC Ensembl
Outerchr21:34554780..34656639hg18UCSC Ensembl
Outerchr21:34554780..34656639hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg383281
hg193281
hg183281
hg173281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509796
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)nssv623837
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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