A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8336



Internal ID15846248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149673216..149693175hg38UCSC Ensembl
Outerchr1:149644806..149664726hg19UCSC Ensembl
Outerchr1:147911430..147931350hg18UCSC Ensembl
Outerchr1:146457879..146477799hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3819960
hg1919921
hg1819921
hg1719921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22423, nssv21393, nssv23383, nssv23058, nssv25170, nssv20076, nssv19756
SamplesNA07029, NA18504, NA18563, NA07048, NA10863, NA18517, NA18552
Known GenesLINC00869
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)nsv8336
Frequency
Sample Size31
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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