A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12108



Internal ID15490010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13296703..13300449hg38UCSC Ensembl
Outerchr1:13291203..13300836hg38UCSC Ensembl
Innerchr1:13402298..13406045hg19UCSC Ensembl
Outerchr1:13396801..13406432hg19UCSC Ensembl
Innerchr1:13274885..13278632hg18UCSC Ensembl
Outerchr1:13269388..13279019hg18UCSC Ensembl
Innerchr1:13147604..13151351hg17UCSC Ensembl
Outerchr1:13142107..13151738hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389634
hg199632
hg189632
hg179632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18564
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)nssv12108
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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