A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18897



Internal ID15841684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5106522..5107669hg38UCSC Ensembl
Outerchr8:5106018..5108245hg38UCSC Ensembl
Innerchr8:4964044..4965191hg19UCSC Ensembl
Outerchr8:4963540..4965767hg19UCSC Ensembl
Innerchr8:4951452..4952599hg18UCSC Ensembl
Outerchr8:4950948..4953175hg18UCSC Ensembl
Innerchr8:4951452..4952599hg17UCSC Ensembl
Outerchr8:4950948..4953175hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382228
hg192228
hg182228
hg172228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19132
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)nssv18897
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