A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18929



Internal ID15843047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133752784..133755252hg38UCSC Ensembl
Outerchr9:133742676..133756723hg38UCSC Ensembl
Innerchr9:136617906..136620374hg19UCSC Ensembl
Outerchr9:136607798..136621845hg19UCSC Ensembl
Innerchr9:135607727..135610195hg18UCSC Ensembl
Outerchr9:135597619..135611666hg18UCSC Ensembl
Innerchr9:133647460..133649928hg17UCSC Ensembl
Outerchr9:133637352..133651399hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3814048
hg1914048
hg1814048
hg1714048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8577
Supporting Variants
SamplesNA19173
Known Genes
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)nssv18929
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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