A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465819



Internal ID15525884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133652796..133664646hg38UCSC Ensembl
Innerchr8:134665039..134676889hg19UCSC Ensembl
Innerchr8:134734221..134746071hg18UCSC Ensembl
Innerchr8:134734221..134746071hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3811851
hg1911851
hg1811851
hg1711851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541549
Samples1798860371_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)nsv465819
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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