A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28257



Internal ID15842129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66157931..66164313hg38UCSC Ensembl
Outerchr2:66157085..66166279hg38UCSC Ensembl
Innerchr2:66385063..66391445hg19UCSC Ensembl
Outerchr2:66384217..66393411hg19UCSC Ensembl
Innerchr2:66238567..66244949hg18UCSC Ensembl
Outerchr2:66237721..66246915hg18UCSC Ensembl
Innerchr2:66296714..66303096hg17UCSC Ensembl
Outerchr2:66295868..66305062hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg389195
hg199195
hg189195
hg179195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9968
Supporting Variants
SamplesNA19132
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)nssv28257
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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