A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22783



Internal ID15488976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21561544..21569735hg38UCSC Ensembl
Outerchr16:21561085..21570813hg38UCSC Ensembl
Innerchr16:21572865..21581056hg19UCSC Ensembl
Outerchr16:21572406..21582134hg19UCSC Ensembl
Innerchr16:21480366..21488557hg18UCSC Ensembl
Outerchr16:21479907..21489635hg18UCSC Ensembl
Innerchr16:21480366..21488557hg17UCSC Ensembl
Outerchr16:21479907..21489635hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg389729
hg199729
hg189729
hg179729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9397
Supporting Variants
SamplesNA18552
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)nssv22783
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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