A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465645



Internal ID15179024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43269523..43936548hg38UCSC Ensembl
Innerchr8:43124666..43791691hg19UCSC Ensembl
Innerchr8:43243823..43910848hg18UCSC Ensembl
Innerchr8:43243823..43910848hg17UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38667026
hg19667026
hg18667026
hg17667026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv883n27
Supporting Variantsnssv541415
SamplesHGDP00258
Known GenesPOTEA
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv465645
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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