A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20301



Internal ID15838289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:66991797..66992803hg38UCSC Ensembl
Outerchr9:66991344..66993119hg38UCSC Ensembl
Innerchr9:40700038..40701044hg19UCSC Ensembl
Outerchr9:40699722..40701497hg19UCSC Ensembl
Innerchr9:40690038..40691044hg18UCSC Ensembl
Outerchr9:40689722..40691497hg18UCSC Ensembl
Innerchr9:40429321..40430327hg17UCSC Ensembl
Outerchr9:40429005..40430780hg17UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg381776
hg191776
hg181776
hg171776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8456
Supporting Variants
SamplesNA18860
Known GenesSPATA31A3
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)nssv20301
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer