A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21479



Internal ID15842885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88432928..88450066hg38UCSC Ensembl
Outerchr12:88362133..88451455hg38UCSC Ensembl
Innerchr12:88826705..88843843hg19UCSC Ensembl
Outerchr12:88755910..88845232hg19UCSC Ensembl
Innerchr12:87350836..87367974hg18UCSC Ensembl
Outerchr12:87280041..87369363hg18UCSC Ensembl
Innerchr12:87329173..87346311hg17UCSC Ensembl
Outerchr12:87258378..87347700hg17UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3889323
hg1989323
hg1889323
hg1789323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8997
Supporting Variants
SamplesNA19173
Known Genes
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)nssv21479
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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