A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28255



Internal ID15840500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131553482..131753010hg38UCSC Ensembl
Outerchr2:131549722..131757433hg38UCSC Ensembl
Innerchr2:132311055..132510583hg19UCSC Ensembl
Outerchr2:132307295..132515006hg19UCSC Ensembl
Innerchr2:132027525..132227053hg18UCSC Ensembl
Outerchr2:132023765..132231476hg18UCSC Ensembl
Innerchr2:132144787..132344315hg17UCSC Ensembl
Outerchr2:132141027..132348738hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38207712
hg19207712
hg18207712
hg17207712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18980
Known GenesC2orf27A, LINC01087, POTEKP, RNU6-81P
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)nssv28255
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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