A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465274



Internal ID15178653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1736898..1780126hg38UCSC Ensembl
Innerchr8:1685064..1728292hg19UCSC Ensembl
Innerchr8:1672471..1715699hg18UCSC Ensembl
Innerchr8:1672471..1715699hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3843229
hg1943229
hg1843229
hg1743229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541105
Samples1780862345_A
Known GenesCLN8
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)nsv465274
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