A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11648



Internal ID15830718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131592397..131751255hg38UCSC Ensembl
Outerchr2:131591863..131751973hg38UCSC Ensembl
Innerchr2:132349970..132508828hg19UCSC Ensembl
Outerchr2:132349436..132509546hg19UCSC Ensembl
Innerchr2:132066440..132225298hg18UCSC Ensembl
Outerchr2:132065906..132226016hg18UCSC Ensembl
Innerchr2:132183702..132342560hg17UCSC Ensembl
Outerchr2:132183168..132343278hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38160111
hg19160111
hg18160111
hg17160111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA12155
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)nssv11648
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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