A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28344



Internal ID15487881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:399086..401236hg38UCSC Ensembl
Outerchr2:397915..402063hg38UCSC Ensembl
Innerchr2:399086..401236hg19UCSC Ensembl
Outerchr2:397915..402063hg19UCSC Ensembl
Innerchr2:389086..391236hg18UCSC Ensembl
Outerchr2:387915..392063hg18UCSC Ensembl
Innerchr2:389086..391236hg17UCSC Ensembl
Outerchr2:387915..392063hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384149
hg194149
hg184149
hg174149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
Supporting Variants
SamplesNA18517
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)nssv28344
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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