A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22044



Internal ID15840316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28366132..28371875hg38UCSC Ensembl
Outerchr16:28365572..28374204hg38UCSC Ensembl
Innerchr16:28377453..28383196hg19UCSC Ensembl
Outerchr16:28376893..28385525hg19UCSC Ensembl
Innerchr16:28284954..28290697hg18UCSC Ensembl
Outerchr16:28284394..28293026hg18UCSC Ensembl
Innerchr16:28284954..28290697hg17UCSC Ensembl
Outerchr16:28284394..28293026hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388633
hg198633
hg188633
hg178633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9414
Supporting Variants
SamplesNA18975
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)nssv22044
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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