A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20640



Internal ID15496988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712750..7769804hg38UCSC Ensembl
Outerchr8:7711892..7770371hg38UCSC Ensembl
Innerchr8:7570272..7627326hg19UCSC Ensembl
Outerchr8:7569414..7627893hg19UCSC Ensembl
Innerchr8:7607682..7664736hg18UCSC Ensembl
Outerchr8:7606824..7665303hg18UCSC Ensembl
Innerchr8:7607682..7664736hg17UCSC Ensembl
Outerchr8:7606824..7665303hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3858480
hg1958480
hg1858480
hg1758480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19221
Known GenesFAM90A10P
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)nssv20640
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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