A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510779



Internal ID15478275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1528684..1633316hg38UCSC Ensembl
Outerchr20:1509330..1613962hg19UCSC Ensembl
Outerchr20:1457330..1561962hg18UCSC Ensembl
Outerchr20:1457330..1561962hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38104633
hg19104633
hg18104633
hg17104633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619005, nssv617441, nssv622795, nssv620162
SamplesCHM, NA15510, NA18994, NA10860
Known GenesSIRPB1, SIRPD, SIRPG
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)nsv510779
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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