A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8304



Internal ID15499530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:16428725..17032148hg38UCSC Ensembl
Outerchr8:16286234..16889657hg19UCSC Ensembl
Outerchr8:16330605..16934028hg18UCSC Ensembl
Outerchr8:16330605..16934028hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38603424
hg19603424
hg18603424
hg17603424
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16060, nssv17317, nssv19521, nssv21000
SamplesNA11830, NA12802, NA18860, NA19221
Known GenesFGF20, MICU3
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)nsv8304
Frequency
Sample Size31
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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