A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28035



Internal ID15485011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12921043..12924459hg38UCSC Ensembl
Outerchr1:12920591..12924793hg38UCSC Ensembl
Innerchr1:12980863..12984279hg19UCSC Ensembl
Outerchr1:12980411..12984613hg19UCSC Ensembl
Innerchr1:12903450..12906866hg18UCSC Ensembl
Outerchr1:12902998..12907200hg18UCSC Ensembl
Innerchr1:12915129..12918545hg17UCSC Ensembl
Outerchr1:12914677..12918879hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384203
hg194203
hg184203
hg174203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA12802
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)nssv28035
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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