A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28465



Internal ID15482823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169793336..170101458hg38UCSC Ensembl
Outerchr2:169701593..170169904hg38UCSC Ensembl
Innerchr2:170649846..170957968hg19UCSC Ensembl
Outerchr2:170558103..171026414hg19UCSC Ensembl
Innerchr2:170358092..170666214hg18UCSC Ensembl
Outerchr2:170266349..170734660hg18UCSC Ensembl
Innerchr2:170475353..170783475hg17UCSC Ensembl
Outerchr2:170383610..170851921hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38468312
hg19468312
hg18468312
hg17468312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10201
Supporting Variants
SamplesNA10863
Known GenesKLHL23, METTL5, PHOSPHO2, PHOSPHO2-KLHL23, SSB, UBR3
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)nssv28465
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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