A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19763



Internal ID15492775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67327579..67329891hg38UCSC Ensembl
Outerchr1:67326710..67330488hg38UCSC Ensembl
Innerchr1:67793262..67795574hg19UCSC Ensembl
Outerchr1:67792393..67796171hg19UCSC Ensembl
Innerchr1:67565850..67568162hg18UCSC Ensembl
Outerchr1:67564981..67568759hg18UCSC Ensembl
Innerchr1:67505283..67507595hg17UCSC Ensembl
Outerchr1:67504414..67508192hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383779
hg193779
hg183779
hg173779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10228
Supporting Variants
SamplesNA18972
Known GenesIL12RB2
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)nssv19763
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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