A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16684



Internal ID15482008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7712750..7774912hg38UCSC Ensembl
Outerchr8:7711892..7775558hg38UCSC Ensembl
Innerchr8:7570272..7632434hg19UCSC Ensembl
Outerchr8:7569414..7633080hg19UCSC Ensembl
Innerchr8:7607682..7669844hg18UCSC Ensembl
Outerchr8:7606824..7670490hg18UCSC Ensembl
Innerchr8:7607682..7669844hg17UCSC Ensembl
Outerchr8:7606824..7670490hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3863667
hg1963667
hg1863667
hg1763667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA10839
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)nssv16684
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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