A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8648



Internal ID15499874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45948797..45951841hg38UCSC Ensembl
Outerchr10:51347713..51350757hg19UCSC Ensembl
Outerchr10:51017719..51020763hg18UCSC Ensembl
Outerchr10:51017719..51020763hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383045
hg193045
hg183045
hg173045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18836, nssv22611
SamplesNA18860, NA19007
Known GenesLOC728407, PARG
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)nsv8648
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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