A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20476



Internal ID15488778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11065724..11097742hg38UCSC Ensembl
Outerchr12:11065340..11098551hg38UCSC Ensembl
Innerchr12:11218323..11250341hg19UCSC Ensembl
Outerchr12:11217939..11251150hg19UCSC Ensembl
Innerchr12:11109590..11141608hg18UCSC Ensembl
Outerchr12:11109206..11142417hg18UCSC Ensembl
Innerchr12:11109590..11141608hg17UCSC Ensembl
Outerchr12:11109206..11142417hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3833212
hg1933212
hg1833212
hg1733212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA18552
Known GenesPRH1-PRR4, TAS2R43
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)nssv20476
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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