A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619005



Internal ID15472123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1528684..1588291hg38UCSC Ensembl
Outerchr20:1509330..1568937hg19UCSC Ensembl
Outerchr20:1457330..1516937hg18UCSC Ensembl
Outerchr20:1457330..1516937hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3859608
hg1959608
hg1859608
hg1759608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510779
Supporting Variants
SamplesNA10860
Known GenesSIRPB1, SIRPD
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)nssv619005
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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