A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510502



Internal ID6096968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:27386746..27392746hg19UCSC Ensembl
Outerchr21:26308617..26314617hg18UCSC Ensembl
Outerchr21:26308617..26314617hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv618461
SamplesCHM
Known GenesAPP
Method
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)nsv510502
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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