A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22022



Internal ID15480929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32187773..32187812hg38UCSC Ensembl
Outerchr16:32187314..32187864hg38UCSC Ensembl
Innerchr16:32199094..32199133hg19UCSC Ensembl
Outerchr16:32198635..32199185hg19UCSC Ensembl
Innerchr16:32106595..32106634hg18UCSC Ensembl
Outerchr16:32106136..32106686hg18UCSC Ensembl
Innerchr16:32106595..32106634hg17UCSC Ensembl
Outerchr16:32106136..32106686hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38551
hg19551
hg18551
hg17551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA07029
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)nssv22022
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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