A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24457



Internal ID15843916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87073948..87085715hg38UCSC Ensembl
Outerchr10:87073496..87087655hg38UCSC Ensembl
Innerchr10:88833705..88845472hg19UCSC Ensembl
Outerchr10:88833253..88847412hg19UCSC Ensembl
Innerchr10:88823685..88835452hg18UCSC Ensembl
Outerchr10:88823233..88837392hg18UCSC Ensembl
Innerchr10:88823685..88835452hg17UCSC Ensembl
Outerchr10:88823233..88837392hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3814160
hg1914160
hg1814160
hg1714160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8714
Supporting Variants
SamplesNA19221
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)nssv24457
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer