A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28658



Internal ID15484813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131308068..131315875hg38UCSC Ensembl
Outerchr2:131304288..131316732hg38UCSC Ensembl
Innerchr2:132065641..132073448hg19UCSC Ensembl
Outerchr2:132061861..132074305hg19UCSC Ensembl
Innerchr2:131782111..131789918hg18UCSC Ensembl
Outerchr2:131778331..131790775hg18UCSC Ensembl
Innerchr2:131899373..131907180hg17UCSC Ensembl
Outerchr2:131895593..131908037hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3812445
hg1912445
hg1812445
hg1712445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA12740
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)nssv28658
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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