A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28127



Internal ID15497256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:86495433..86509005hg38UCSC Ensembl
Outerchr16:86494549..86511742hg38UCSC Ensembl
Innerchr16:86529039..86542611hg19UCSC Ensembl
Outerchr16:86528155..86545348hg19UCSC Ensembl
Innerchr16:85086540..85100112hg18UCSC Ensembl
Outerchr16:85085656..85102849hg18UCSC Ensembl
Innerchr16:85086540..85100112hg17UCSC Ensembl
Outerchr16:85085656..85102849hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3817194
hg1917194
hg1817194
hg1717194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9468
Supporting Variants
SamplesNA19221
Known GenesFENDRR, FOXF1
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)nssv28127
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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