A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17971



Internal ID15497716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7465224..7467799hg38UCSC Ensembl
Outerchr8:7464642..7468220hg38UCSC Ensembl
Innerchr8:7322746..7325321hg19UCSC Ensembl
Outerchr8:7322164..7325742hg19UCSC Ensembl
Innerchr8:7310156..7312731hg18UCSC Ensembl
Outerchr8:7309574..7313152hg18UCSC Ensembl
Innerchr8:7310156..7312731hg17UCSC Ensembl
Outerchr8:7309574..7313152hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383579
hg193579
hg183579
hg173579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
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)nssv17971
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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