A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25967



Internal ID15841651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247980189..247983377hg38UCSC Ensembl
Outerchr1:247979821..247984367hg38UCSC Ensembl
Innerchr1:248143491..248146679hg19UCSC Ensembl
Outerchr1:248143123..248147669hg19UCSC Ensembl
Innerchr1:246210114..246213302hg18UCSC Ensembl
Outerchr1:246209746..246214292hg18UCSC Ensembl
Innerchr1:244469532..244472720hg17UCSC Ensembl
Outerchr1:244469164..244473710hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384547
hg194547
hg184547
hg174547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9091
Supporting Variants
SamplesNA19132
Known GenesOR2L13
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)nssv25967
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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