A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10376



Internal ID15845339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193681495..193685362hg38UCSC Ensembl
Outerchr3:193399284..193403151hg19UCSC Ensembl
Outerchr3:194881978..194885845hg18UCSC Ensembl
Outerchr3:194881986..194885853hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383868
hg193868
hg183868
hg173868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11799, nssv12291, nssv13260
SamplesNA18860, NA19221, NA12740
Known GenesOPA1
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)nsv10376
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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