A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137



Internal ID15483603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8008056..8008074hg38UCSC Ensembl
Outerchr8:8007111..8008636hg38UCSC Ensembl
Innerchr8:7865578..7865596hg19UCSC Ensembl
Outerchr8:7864633..7866158hg19UCSC Ensembl
Innerchr8:7902988..7903006hg18UCSC Ensembl
Outerchr8:7902043..7903568hg18UCSC Ensembl
Innerchr8:7902988..7903006hg17UCSC Ensembl
Outerchr8:7902043..7903568hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381526
hg191526
hg181526
hg171526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA11830
Known GenesFAM66E
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)nssv17137
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