A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465733



Internal ID15525798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86174821..86290099hg38UCSC Ensembl
Innerchr8:87187050..87302328hg19UCSC Ensembl
Innerchr8:87256166..87371444hg18UCSC Ensembl
Innerchr8:87256166..87371444hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38115279
hg19115279
hg18115279
hg17115279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541483
SamplesNINDS_9
Known GenesSLC7A13
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)nsv465733
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