A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20316



Internal ID15482912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32178257..32182629hg38UCSC Ensembl
Outerchr12:32177409..32184224hg38UCSC Ensembl
Innerchr12:32331191..32335563hg19UCSC Ensembl
Outerchr12:32330343..32337158hg19UCSC Ensembl
Innerchr12:32222458..32226830hg18UCSC Ensembl
Outerchr12:32221610..32228425hg18UCSC Ensembl
Innerchr12:32222458..32226830hg17UCSC 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 StatusS
Merged Variantsnsv8942
Supporting Variants
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)nssv20316
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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