A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20660



Internal ID15837550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88445368..88450066hg38UCSC Ensembl
Outerchr12:88432928..88451455hg38UCSC Ensembl
Innerchr12:88839145..88843843hg19UCSC Ensembl
Outerchr12:88826705..88845232hg19UCSC Ensembl
Innerchr12:87363276..87367974hg18UCSC Ensembl
Outerchr12:87350836..87369363hg18UCSC Ensembl
Innerchr12:87341613..87346311hg17UCSC Ensembl
Outerchr12:87329173..87347700hg17UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3818528
hg1918528
hg1818528
hg1718528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8997
Supporting Variants
SamplesNA18853
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)nssv20660
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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