A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8620



Internal ID15846532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38685508..38743909hg38UCSC Ensembl
Outerchr10:38978639..39037040hg19UCSC Ensembl
Outerchr10:39018645..39077046hg18UCSC Ensembl
Outerchr10:39018645..39077046hg17UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3858402
hg1958402
hg1858402
hg1758402
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19113, nssv18825, nssv19143
SamplesNA07048, NA18537
Known GenesACTR3BP5
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)nsv8620
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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