A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465666



Internal ID15525731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46149355..46828229hg38UCSC Ensembl
Innerchr8:47060977..47739851hg19UCSC Ensembl
Innerchr8:47180142..47859016hg18UCSC Ensembl
Innerchr8:47180142..47859016hg17UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38678875
hg19678875
hg18678875
hg17678875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541426
Samples1787431197_A
Known Genes
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)nsv465666
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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