A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26301



Internal ID15495299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32154446..32155695hg38UCSC Ensembl
Outerchr16:32154145..32156956hg38UCSC Ensembl
Innerchr16:32165767..32167016hg19UCSC Ensembl
Outerchr16:32165466..32168277hg19UCSC Ensembl
Innerchr16:32073268..32074517hg18UCSC Ensembl
Outerchr16:32072967..32075778hg18UCSC Ensembl
Innerchr16:32073268..32074517hg17UCSC Ensembl
Outerchr16:32072967..32075778hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382812
hg192812
hg182812
hg172812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19132
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)nssv26301
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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