A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9871



Internal ID15501097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17545048..17683541hg38UCSC Ensembl
Outerchr22:18024735..18166307hg19UCSC Ensembl
Outerchr22:16404735..16546307hg18UCSC Ensembl
Outerchr22:16399289..16540861hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38138494
hg19141573
hg18141573
hg17141573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27301
SamplesNA18504
Known GenesATP6V1E1, BCL2L13, CECR2, SLC25A18
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)nsv9871
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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