A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21308



Internal ID15830532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8194562..8227717hg38UCSC Ensembl
Outerchr12:8194213..8228244hg38UCSC Ensembl
Innerchr12:8347158..8380313hg19UCSC Ensembl
Outerchr12:8346809..8380840hg19UCSC Ensembl
Innerchr12:8238425..8271580hg18UCSC Ensembl
Outerchr12:8238076..8272107hg18UCSC Ensembl
Innerchr12:8238425..8271580hg17UCSC Ensembl
Outerchr12:8238076..8272107hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3834032
hg1934032
hg1834032
hg1734032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8899
Supporting Variants
SamplesNA12155
Known GenesFAM66C, FAM90A1
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)nssv21308
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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