A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17609



Internal ID15496232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712750..7774564hg38UCSC Ensembl
Outerchr8:7711892..7774912hg38UCSC Ensembl
Innerchr8:7570272..7632086hg19UCSC Ensembl
Outerchr8:7569414..7632434hg19UCSC Ensembl
Innerchr8:7607682..7669496hg18UCSC Ensembl
Outerchr8:7606824..7669844hg18UCSC Ensembl
Innerchr8:7607682..7669496hg17UCSC Ensembl
Outerchr8:7606824..7669844hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3863021
hg1963021
hg1863021
hg1763021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19173
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)nssv17609
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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