A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236



Internal ID15488497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12601073..12608545hg38UCSC Ensembl
Outerchr8:12601055..12608881hg38UCSC Ensembl
Innerchr8:12458582..12466054hg19UCSC Ensembl
Outerchr8:12458564..12466390hg19UCSC Ensembl
Innerchr8:12502953..12510425hg18UCSC Ensembl
Outerchr8:12502935..12510761hg18UCSC Ensembl
Innerchr8:12502953..12510425hg17UCSC Ensembl
Outerchr8:12502935..12510761hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387827
hg197827
hg187827
hg177827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18552
Known GenesLOC729732
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)nssv17236
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