A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508583



Internal ID15480259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45881821..46146976hg38UCSC Ensembl
Outerchr10:51385007..51714005hg19UCSC Ensembl
Outerchr10:51055013..51384011hg18UCSC Ensembl
Outerchr10:51055013..51384011hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38265156
hg19328999
hg18328999
hg17328999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622674, nssv618921
SamplesNA18994, NA10860
Known GenesAGAP7, MSMB, NCOA4, TIMM23
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)nsv508583
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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