A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949



Internal ID15490357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12169745..12176696hg38UCSC Ensembl
Outerchr8:12169319..12176995hg38UCSC Ensembl
Innerchr8:12027254..12034205hg19UCSC Ensembl
Outerchr8:12026828..12034504hg19UCSC Ensembl
Innerchr8:12064663..12071614hg18UCSC Ensembl
Outerchr8:12064237..12071913hg18UCSC Ensembl
Innerchr8:12064663..12071614hg17UCSC Ensembl
Outerchr8:12064237..12071913hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387677
hg197677
hg187677
hg177677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18572
Known GenesFAM90A2P
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)nssv15949
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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