A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8714



Internal ID15846626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:87069127..87087655hg38UCSC Ensembl
Outerchr10:88828884..88847412hg19UCSC Ensembl
Outerchr10:88818864..88837392hg18UCSC Ensembl
Outerchr10:88818864..88837392hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3818529
hg1918529
hg1818529
hg1718529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19444, nssv22077, nssv19485, nssv21661, nssv24457, nssv19907, nssv21582
SamplesNA18502, NA18563, NA10839, NA19221, NA18537, NA19132, NA19240
Known GenesGLUD1
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)nsv8714
Frequency
Sample Size31
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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