A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8935



Internal ID15846847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236956392..236971133hg38UCSC Ensembl
Outerchr1:237119692..237134433hg19UCSC Ensembl
Outerchr1:235186315..235201056hg18UCSC Ensembl
Outerchr1:233445733..233460474hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3814742
hg1914742
hg1814742
hg1714742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25169
SamplesNA18504
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)nsv8935
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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