A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19442



Internal ID15827226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10994714..10995579hg38UCSC Ensembl
Outerchr12:10993995..10995990hg38UCSC Ensembl
Innerchr12:11147313..11148178hg19UCSC Ensembl
Outerchr12:11146594..11148589hg19UCSC Ensembl
Innerchr12:11038580..11039445hg18UCSC Ensembl
Outerchr12:11037861..11039856hg18UCSC Ensembl
Innerchr12:11038580..11039445hg17UCSC Ensembl
Outerchr12:11037861..11039856hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381996
hg191996
hg181996
hg171996
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8915
Supporting Variants
SamplesNA07029
Known GenesPRH1-PRR4, TAS2R20
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)nssv19442
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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