A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508590



Internal ID15824617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69494406..69532548hg38UCSC Ensembl
Outerchr10:71254162..71292304hg19UCSC Ensembl
Outerchr10:70924168..70962310hg18UCSC Ensembl
Outerchr10:70924168..70962310hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3838143
hg1938143
hg1838143
hg1738143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622693
SamplesNA18994
Known GenesTSPAN15
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)nsv508590
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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