A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465822



Internal ID15525887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136280918..136309563hg38UCSC Ensembl
Innerchr8:137293161..137321806hg19UCSC Ensembl
Innerchr8:137362343..137390988hg18UCSC Ensembl
Innerchr8:137362343..137390988hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3828646
hg1928646
hg1828646
hg1728646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541551
SamplesHGDP00559
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)nsv465822
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