A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27301



Internal ID15486817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17580207..17632478hg38UCSC Ensembl
Outerchr22:17545048..17683541hg38UCSC Ensembl
Innerchr22:18062973..18115244hg19UCSC Ensembl
Outerchr22:18024735..18166307hg19UCSC Ensembl
Innerchr22:16442973..16495244hg18UCSC Ensembl
Outerchr22:16404735..16546307hg18UCSC Ensembl
Innerchr22:16437527..16489798hg17UCSC 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 StatusS
Merged Variantsnsv9871
Supporting Variants
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)nssv27301
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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