A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23980



Internal ID15828225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234776920..234818756hg38UCSC Ensembl
Outerchr1:234776324..234819348hg38UCSC Ensembl
Innerchr1:234912667..234954503hg19UCSC Ensembl
Outerchr1:234912071..234955095hg19UCSC Ensembl
Innerchr1:232979290..233021126hg18UCSC Ensembl
Outerchr1:232978694..233021718hg18UCSC Ensembl
Innerchr1:231219402..231261238hg17UCSC Ensembl
Outerchr1:231218806..231261830hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3843025
hg1943025
hg1843025
hg1743025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8913
Supporting Variants
SamplesNA07048
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)nssv23980
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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