A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508587



Internal ID15824614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59391139..59519087hg38UCSC Ensembl
Outerchr10:61150897..61278845hg19UCSC Ensembl
Outerchr10:60820903..60948851hg18UCSC Ensembl
Outerchr10:60820903..60948851hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38127949
hg19127949
hg18127949
hg17127949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622684
SamplesNA18994
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)nsv508587
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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