A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20183



Internal ID15492789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52938660..52941640hg38UCSC Ensembl
Outerchr8:52938312..52941949hg38UCSC Ensembl
Innerchr8:53851220..53854200hg19UCSC Ensembl
Outerchr8:53850872..53854509hg19UCSC Ensembl
Innerchr8:54013773..54016753hg18UCSC Ensembl
Outerchr8:54013425..54017062hg18UCSC Ensembl
Innerchr8:54013773..54016753hg17UCSC Ensembl
Outerchr8:54013425..54017062hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383638
hg193638
hg183638
hg173638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8344
Supporting Variants
SamplesNA18972
Known GenesNPBWR1
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)nssv20183
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer