A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29256



Internal ID15484754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12849530..12856793hg38UCSC Ensembl
Outerchr1:12848985..12857181hg38UCSC Ensembl
Innerchr1:12909383..12916648hg19UCSC Ensembl
Outerchr1:12908838..12917036hg19UCSC Ensembl
Innerchr1:12831970..12839235hg18UCSC Ensembl
Outerchr1:12831425..12839623hg18UCSC Ensembl
Innerchr1:12843649..12850914hg17UCSC Ensembl
Outerchr1:12843104..12851302hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388197
hg198199
hg188199
hg178199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA12740
Known GenesPRAMEF2
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)nssv29256
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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