A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12109



Internal ID15490286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12921043..12929806hg38UCSC Ensembl
Outerchr1:12920591..12931540hg38UCSC Ensembl
Innerchr1:12980863..12989636hg19UCSC Ensembl
Outerchr1:12980411..12991370hg19UCSC Ensembl
Innerchr1:12903450..12912223hg18UCSC Ensembl
Outerchr1:12902998..12913957hg18UCSC Ensembl
Innerchr1:12915129..12923902hg17UCSC Ensembl
Outerchr1:12914677..12925636hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3810950
hg1910960
hg1810960
hg1710960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18572
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)nssv12109
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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