A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19521



Internal ID15491854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16994200..16994948hg38UCSC Ensembl
Outerchr8:16993476..16995352hg38UCSC Ensembl
Innerchr8:16851709..16852457hg19UCSC Ensembl
Outerchr8:16850985..16852861hg19UCSC Ensembl
Innerchr8:16896080..16896828hg18UCSC Ensembl
Outerchr8:16895356..16897232hg18UCSC Ensembl
Innerchr8:16896080..16896828hg17UCSC Ensembl
Outerchr8:16895356..16897232hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381877
hg191877
hg181877
hg171877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8304
Supporting Variants
SamplesNA18860
Known GenesFGF20
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)nssv19521
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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