A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17267



Internal ID15835949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:66993144..67031921hg38UCSC Ensembl
Outerchr9:66993119..67034189hg38UCSC Ensembl
Innerchr9:40660920..40699697hg19UCSC Ensembl
Outerchr9:40658652..40699722hg19UCSC Ensembl
Innerchr9:40650920..40689697hg18UCSC Ensembl
Outerchr9:40648652..40689722hg18UCSC Ensembl
Innerchr9:40390203..40428980hg17UCSC Ensembl
Outerchr9:40387935..40429005hg17UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3841071
hg1941071
hg1841071
hg1741071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8456
Supporting Variants
SamplesNA18563
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)nssv17267
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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