A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27158



Internal ID15491668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:399086..400173hg38UCSC Ensembl
Outerchr2:397915..401236hg38UCSC Ensembl
Innerchr2:399086..400173hg19UCSC Ensembl
Outerchr2:397915..401236hg19UCSC Ensembl
Innerchr2:389086..390173hg18UCSC Ensembl
Outerchr2:387915..391236hg18UCSC Ensembl
Innerchr2:389086..390173hg17UCSC Ensembl
Outerchr2:387915..391236hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383322
hg193322
hg183322
hg173322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
Supporting Variants
SamplesNA18860
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)nssv27158
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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