A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22472



Internal ID15480780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33792732..34014289hg38UCSC Ensembl
Outerchr16:33792173..34014967hg38UCSC Ensembl
Innerchr16:33595199..33816756hg19UCSC Ensembl
Outerchr16:33594640..33817434hg19UCSC Ensembl
Innerchr16:33502700..33724257hg18UCSC Ensembl
Outerchr16:33502141..33724935hg18UCSC Ensembl
Innerchr16:33502700..33724257hg17UCSC Ensembl
Outerchr16:33502141..33724935hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38222795
hg19222795
hg18222795
hg17222795
Variant TypeCNV loss
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)nssv22472
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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