A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20991



Internal ID15838624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69403728..69413174hg38UCSC Ensembl
Outerchr9:69402808..69419819hg38UCSC Ensembl
Innerchr9:72018644..72028090hg19UCSC Ensembl
Outerchr9:72017724..72034735hg19UCSC Ensembl
Innerchr9:71208464..71217910hg18UCSC Ensembl
Outerchr9:71207544..71224555hg18UCSC Ensembl
Innerchr9:69248198..69257644hg17UCSC Ensembl
Outerchr9:69247278..69264289hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3817012
hg1917012
hg1817012
hg1717012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8522
Supporting Variants
SamplesNA18860
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)nssv20991
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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