A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510798



Internal ID15826823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42135123..42169700hg38UCSC Ensembl
Outerchr21:43555233..43589810hg19UCSC Ensembl
Outerchr21:42428302..42462879hg18UCSC Ensembl
Outerchr21:42428302..42462879hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3834578
hg1934578
hg1834578
hg1734578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620168
SamplesNA15510
Known GenesUMODL1
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)nsv510798
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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