A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508599



Internal ID15824626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:90667774..90707958hg38UCSC Ensembl
Outerchr10:92427531..92467715hg19UCSC Ensembl
Outerchr10:92417511..92457695hg18UCSC Ensembl
Outerchr10:92417511..92457695hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3840185
hg1940185
hg1840185
hg1740185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617381, nssv622731
SamplesCHM, NA18994
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)nsv508599
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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