A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853



Internal ID15827870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:19127081..19127920hg38UCSC Ensembl
Outerchr9:19126473..19128692hg38UCSC Ensembl
Innerchr9:19127079..19127918hg19UCSC Ensembl
Outerchr9:19126471..19128690hg19UCSC Ensembl
Innerchr9:19117079..19117918hg18UCSC Ensembl
Outerchr9:19116471..19118690hg18UCSC Ensembl
Innerchr9:19117079..19117918hg17UCSC Ensembl
Outerchr9:19116471..19118690hg17UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg382220
hg192220
hg182220
hg172220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8423
Supporting Variants
SamplesNA07048
Known GenesPLIN2
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)nssv17853
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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