A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8213



Internal ID15499439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10390857..10400382hg38UCSC Ensembl
Outerchr1:10450914..10460439hg19UCSC Ensembl
Outerchr1:10373501..10383026hg18UCSC Ensembl
Outerchr1:10385180..10394705hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg389526
hg199526
hg189526
hg179526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28055
SamplesNA19221
Known GenesPGD
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)nsv8213
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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