A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27020



Internal ID15486940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248574773..248632263hg38UCSC Ensembl
Outerchr1:248574482..248632893hg38UCSC Ensembl
Innerchr1:248738074..248795564hg19UCSC Ensembl
Outerchr1:248737783..248796194hg19UCSC Ensembl
Innerchr1:246804697..246862187hg18UCSC Ensembl
Outerchr1:246804406..246862817hg18UCSC Ensembl
Innerchr1:245064115..245121605hg17UCSC Ensembl
Outerchr1:245063824..245122235hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3858412
hg1958412
hg1858412
hg1758412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9191
Supporting Variants
SamplesNA18504
Known GenesOR2T10, OR2T11, OR2T34
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)nssv27020
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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