A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21210



Internal ID15843555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39561456..39563614hg38UCSC Ensembl
Outerchr8:39560853..39563899hg38UCSC Ensembl
Innerchr8:39418975..39421133hg19UCSC Ensembl
Outerchr8:39418372..39421418hg19UCSC Ensembl
Innerchr8:39538132..39540290hg18UCSC Ensembl
Outerchr8:39537529..39540575hg18UCSC Ensembl
Innerchr8:39538132..39540290hg17UCSC Ensembl
Outerchr8:39537529..39540575hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg383047
hg193047
hg183047
hg173047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8332
Supporting Variants
SamplesNA19221
Known GenesLOC100130964
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)nssv21210
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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