A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19042



Internal ID15839047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11349006..11394982hg38UCSC Ensembl
Outerchr12:11348304..11395318hg38UCSC Ensembl
Innerchr12:11501940..11547916hg19UCSC Ensembl
Outerchr12:11501238..11548252hg19UCSC Ensembl
Innerchr12:11393207..11439183hg18UCSC Ensembl
Outerchr12:11392505..11439519hg18UCSC Ensembl
Innerchr12:11393207..11439183hg17UCSC Ensembl
Outerchr12:11392505..11439519hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3847015
hg1947015
hg1847015
hg1747015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8921
Supporting Variants
SamplesNA18942
Known GenesPRB1, PRB2
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)nssv19042
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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