A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14084



Internal ID15487227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16651571..16655705hg38UCSC Ensembl
Outerchr1:16651123..16656231hg38UCSC Ensembl
Innerchr1:16978066..16982200hg19UCSC Ensembl
Outerchr1:16977618..16982726hg19UCSC Ensembl
Innerchr1:16850653..16854787hg18UCSC Ensembl
Outerchr1:16850205..16855313hg18UCSC Ensembl
Innerchr1:16723372..16727506hg17UCSC Ensembl
Outerchr1:16722924..16728032hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385109
hg195109
hg185109
hg175109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18517
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)nssv14084
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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