A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20336



Internal ID15494576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20877271..20877677hg38UCSC Ensembl
Outerchr12:20876792..20878015hg38UCSC Ensembl
Innerchr12:21030205..21030611hg19UCSC Ensembl
Outerchr12:21029726..21030949hg19UCSC Ensembl
Innerchr12:20921472..20921878hg18UCSC Ensembl
Outerchr12:20920993..20922216hg18UCSC Ensembl
Innerchr12:20921472..20921878hg17UCSC Ensembl
Outerchr12:20920993..20922216hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
hg171224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8927
Supporting Variants
SamplesNA19007
Known GenesSLCO1B3
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)nssv20336
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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