A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18421



Internal ID15497769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12394464..12409667hg38UCSC Ensembl
Outerchr8:12393782..12410493hg38UCSC Ensembl
Innerchr8:12251973..12267176hg19UCSC Ensembl
Outerchr8:12251291..12268002hg19UCSC Ensembl
Innerchr8:12296344..12311547hg18UCSC Ensembl
Outerchr8:12295662..12312373hg18UCSC Ensembl
Innerchr8:12296344..12311547hg17UCSC Ensembl
Outerchr8:12295662..12312373hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816712
hg1916712
hg1816712
hg1716712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19240
Known GenesDEFB109P1, FAM66A
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)nssv18421
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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