A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16795



Internal ID15493759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7912067..7912089hg38UCSC Ensembl
Outerchr8:7910334..7913603hg38UCSC Ensembl
Innerchr8:7769589..7769611hg19UCSC Ensembl
Outerchr8:7767856..7771125hg19UCSC Ensembl
Innerchr8:7806999..7807021hg18UCSC Ensembl
Outerchr8:7805266..7808535hg18UCSC Ensembl
Innerchr8:7806999..7807021hg17UCSC Ensembl
Outerchr8:7805266..7808535hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383270
hg193270
hg183270
hg173270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18980
Known Genes
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)nssv16795
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer