A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25448



Internal ID15486047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248575656..248577656hg38UCSC Ensembl
Outerchr1:248574773..248581459hg38UCSC Ensembl
Innerchr1:248738957..248740957hg19UCSC Ensembl
Outerchr1:248738074..248744760hg19UCSC Ensembl
Innerchr1:246805580..246807580hg18UCSC Ensembl
Outerchr1:246804697..246811383hg18UCSC Ensembl
Innerchr1:245064998..245066998hg17UCSC Ensembl
Outerchr1:245064115..245070801hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg386687
hg196687
hg186687
hg176687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9191
Supporting Variants
SamplesNA18502
Known Genes
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)nssv25448
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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