A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19723



Internal ID15833642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53055106..53079221hg38UCSC Ensembl
Outerchr8:53037819..53083386hg38UCSC Ensembl
Innerchr8:53967666..53991781hg19UCSC Ensembl
Outerchr8:53950379..53995946hg19UCSC Ensembl
Innerchr8:54130219..54154334hg18UCSC Ensembl
Outerchr8:54112932..54158499hg18UCSC Ensembl
Innerchr8:54130219..54154334hg17UCSC Ensembl
Outerchr8:54112932..54158499hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3845568
hg1945568
hg1845568
hg1745568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8346
Supporting Variants
SamplesNA18504
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)nssv19723
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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