A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18145



Internal ID15840950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138231462..138233418hg38UCSC Ensembl
Outerchr9:138231184..138233612hg38UCSC Ensembl
Innerchr9:141121912..141123868hg19UCSC Ensembl
Outerchr9:141121634..141124062hg19UCSC Ensembl
Innerchr9:140241733..140243689hg18UCSC Ensembl
Outerchr9:140241455..140243883hg18UCSC Ensembl
Innerchr9:138397749..138399705hg17UCSC Ensembl
Outerchr9:138397471..138399899hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382429
hg192429
hg182429
hg172429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8590
Supporting Variants
SamplesNA18980
Known GenesFAM157B
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)nssv18145
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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