A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29186



Internal ID15843208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131555833..131729456hg38UCSC Ensembl
Outerchr2:131553832..131729943hg38UCSC Ensembl
Innerchr2:132313406..132487029hg19UCSC Ensembl
Outerchr2:132311405..132487516hg19UCSC Ensembl
Innerchr2:132029876..132203499hg18UCSC Ensembl
Outerchr2:132027875..132203986hg18UCSC Ensembl
Innerchr2:132147138..132320761hg17UCSC Ensembl
Outerchr2:132145137..132321248hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38176112
hg19176112
hg18176112
hg17176112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA19173
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)nssv29186
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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