A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927



Internal ID15483618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7317130..7317628hg38UCSC Ensembl
Outerchr8:7316479..7317646hg38UCSC Ensembl
Innerchr8:7174652..7175150hg19UCSC Ensembl
Outerchr8:7174001..7175168hg19UCSC Ensembl
Innerchr8:7162062..7162560hg18UCSC Ensembl
Outerchr8:7161411..7162578hg18UCSC Ensembl
Innerchr8:7162062..7162560hg17UCSC Ensembl
Outerchr8:7161411..7162578hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381168
hg191168
hg181168
hg171168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA11830
Known GenesDEFB109P1B, FAM66B
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)nssv16927
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