A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17435



Internal ID15829167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47557997..47603917hg38UCSC Ensembl
Outerchr10:47557608..47604188hg38UCSC Ensembl
Innerchr10:48956944..49002853hg19UCSC Ensembl
Outerchr10:48956556..49003124hg19UCSC Ensembl
Innerchr10:48576950..48622859hg18UCSC Ensembl
Outerchr10:48576562..48623130hg18UCSC Ensembl
Innerchr10:48576950..48622859hg17UCSC Ensembl
Outerchr10:48576562..48623130hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3846581
hg1946569
hg1846569
hg1746569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10847
Known GenesGLUD1P7
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)nssv17435
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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