A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12083



Internal ID15839206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131643309..131731520hg38UCSC Ensembl
Outerchr2:131642950..131731985hg38UCSC Ensembl
Innerchr2:132400882..132489093hg19UCSC Ensembl
Outerchr2:132400523..132489558hg19UCSC Ensembl
Innerchr2:132117352..132205563hg18UCSC Ensembl
Outerchr2:132116993..132206028hg18UCSC Ensembl
Innerchr2:132234614..132322825hg17UCSC Ensembl
Outerchr2:132234255..132323290hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3889036
hg1989036
hg1889036
hg1789036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18972
Known GenesC2orf27A, LINC01087
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)nssv12083
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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