A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8942



Internal ID15500168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32177409..32184224hg38UCSC Ensembl
Outerchr12:32330343..32337158hg19UCSC Ensembl
Outerchr12:32221610..32228425hg18UCSC Ensembl
Outerchr12:32221610..32228425hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg386816
hg196816
hg186816
hg176816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20316
SamplesNA10863
Known GenesBICD1
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)nsv8942
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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