A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508588



Internal ID15824615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:65533957..65576840hg38UCSC Ensembl
Outerchr10:67293715..67336598hg19UCSC Ensembl
Outerchr10:66963721..67006604hg18UCSC Ensembl
Outerchr10:66963721..67006604hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3842884
hg1942884
hg1842884
hg1742884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618935, nssv620091
SamplesNA15510, NA10860
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)nsv508588
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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