A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9862



Internal ID15847774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:28842428..28894934hg38UCSC Ensembl
Outerchr21:30214750..30267256hg19UCSC Ensembl
Outerchr21:29136621..29189127hg18UCSC Ensembl
Outerchr21:29136621..29189127hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3852507
hg1952507
hg1852507
hg1752507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26204, nssv25765
SamplesNA19007, NA18537
Known GenesN6AMT1
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)nsv9862
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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