A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8486



Internal ID15846398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40293928..40329508hg38UCSC Ensembl
Outerchr9:43027375..43062956hg19UCSC Ensembl
Outerchr9:43017371..43052952hg18UCSC Ensembl
Outerchr9:45589224..45624804hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3835581
hg1935582
hg1835582
hg1735581
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17986, nssv19208, nssv20382
SamplesNA18502, NA12155, NA18552
Known GenesFAM95B1
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)nsv8486
Frequency
Sample Size31
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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