A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25346



Internal ID15486579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30182862..30183401hg38UCSC Ensembl
Outerchr16:30182223..30184112hg38UCSC Ensembl
Innerchr16:30194183..30194722hg19UCSC Ensembl
Outerchr16:30193544..30195433hg19UCSC Ensembl
Innerchr16:30101684..30102223hg18UCSC Ensembl
Outerchr16:30101045..30102934hg18UCSC Ensembl
Innerchr16:30101684..30102223hg17UCSC Ensembl
Outerchr16:30101045..30102934hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381890
hg191890
hg181890
hg171890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9431
Supporting Variants
SamplesNA18504
Known GenesCORO1A
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)nssv25346
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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