A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9172



Internal ID15847084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103782074..103785848hg38UCSC Ensembl
Outerchr14:104248411..104252185hg19UCSC Ensembl
Outerchr14:103318164..103321938hg18UCSC Ensembl
Outerchr14:103318164..103321938hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383775
hg193775
hg183775
hg173775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21266, nssv22448
SamplesNA12155, NA19007
Known GenesPPP1R13B
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)nsv9172
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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