A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18117



Internal ID15495425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30664..90111hg38UCSC Ensembl
Outerchr1:30290..90626hg38UCSC Ensembl
Innerchr1:30664..90111hg19UCSC Ensembl
Outerchr1:30290..90626hg19UCSC Ensembl
Innerchr1:20527..79974hg18UCSC Ensembl
Outerchr1:20153..80489hg18UCSC Ensembl
Innerchr1:20527..79974hg17UCSC Ensembl
Outerchr1:20153..80489hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3860337
hg1960337
hg1860337
hg1760337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA19132
Known GenesFAM138A, FAM138F, OR4F5
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)nssv18117
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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