A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12263



Internal ID15839212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132280001..132281486hg38UCSC Ensembl
Outerchr2:132279606..132282007hg38UCSC Ensembl
Innerchr2:133037574..133039059hg19UCSC Ensembl
Outerchr2:133037179..133039580hg19UCSC Ensembl
Innerchr2:132754044..132755529hg18UCSC Ensembl
Outerchr2:132753649..132756050hg18UCSC Ensembl
Innerchr2:132871306..132872791hg17UCSC Ensembl
Outerchr2:132870911..132873312hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382402
hg192402
hg182402
hg172402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA18972
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)nssv12263
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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