A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8630



Internal ID15846542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45813233..45853940hg38UCSC Ensembl
Outerchr10:46308681..46349388hg19UCSC Ensembl
Outerchr10:45628687..45669394hg18UCSC Ensembl
Outerchr10:45628687..45669394hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3840708
hg1940708
hg1840708
hg1740708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996, nssv18556, nssv19247, nssv18355, nssv17242
SamplesNA18980, NA18563, NA18942, NA19007, NA18552
Known GenesAGAP4
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8630
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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