A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27940



Internal ID15496029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131228940..131229857hg38UCSC Ensembl
Outerchr2:131228314..131230300hg38UCSC Ensembl
Innerchr2:131986513..131987430hg19UCSC Ensembl
Outerchr2:131985887..131987873hg19UCSC Ensembl
Innerchr2:131702983..131703900hg18UCSC Ensembl
Outerchr2:131702357..131704343hg18UCSC Ensembl
Innerchr2:131820245..131821162hg17UCSC Ensembl
Outerchr2:131819619..131821605hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381987
hg191987
hg181987
hg171987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA19144
Known GenesPOTEE
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)nssv27940
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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