A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18400



Internal ID15485165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11016673..11020722hg38UCSC Ensembl
Outerchr12:11015633..11021127hg38UCSC Ensembl
Innerchr12:11169272..11173321hg19UCSC Ensembl
Outerchr12:11168232..11173726hg19UCSC Ensembl
Innerchr12:11060539..11064588hg18UCSC Ensembl
Outerchr12:11059499..11064993hg18UCSC Ensembl
Innerchr12:11060539..11064588hg17UCSC Ensembl
Outerchr12:11059499..11064993hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385495
hg195495
hg185495
hg175495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8917
Supporting Variants
SamplesNA12802
Known GenesPRH1-PRR4
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)nssv18400
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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