A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13089



Internal ID15484785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16651571..16656231hg38UCSC Ensembl
Outerchr1:16651123..16656468hg38UCSC Ensembl
Innerchr1:16978066..16982726hg19UCSC Ensembl
Outerchr1:16977618..16982963hg19UCSC Ensembl
Innerchr1:16850653..16855313hg18UCSC Ensembl
Outerchr1:16850205..16855550hg18UCSC Ensembl
Innerchr1:16723372..16728032hg17UCSC Ensembl
Outerchr1:16722924..16728269hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385346
hg195346
hg185346
hg175346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12740
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)nssv13089
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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