A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21249



Internal ID15831532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11352694..11353306hg38UCSC Ensembl
Outerchr12:11351730..11354390hg38UCSC Ensembl
Innerchr12:11505628..11506240hg19UCSC Ensembl
Outerchr12:11504664..11507324hg19UCSC Ensembl
Innerchr12:11396895..11397507hg18UCSC Ensembl
Outerchr12:11395931..11398591hg18UCSC Ensembl
Innerchr12:11396895..11397507hg17UCSC Ensembl
Outerchr12:11395931..11398591hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382661
hg192661
hg182661
hg172661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8921
Supporting Variants
SamplesNA12740
Known GenesPRB1
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)nssv21249
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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