A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28943



Internal ID15494385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13337825..13347416hg38UCSC Ensembl
Outerchr1:13327307..13347749hg38UCSC Ensembl
Innerchr1:13443347..13452938hg19UCSC Ensembl
Outerchr1:13432900..13453271hg19UCSC Ensembl
Innerchr1:13315934..13325525hg18UCSC Ensembl
Outerchr1:13305487..13325858hg18UCSC Ensembl
Innerchr1:13188653..13198244hg17UCSC Ensembl
Outerchr1:13178206..13198577hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3820443
hg1920372
hg1820372
hg1720372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19007
Known GenesPRAMEF13
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)nssv28943
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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