A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465926



Internal ID15525991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136685592..136835409hg38UCSC Ensembl
Innerchr8:137697835..137847652hg19UCSC Ensembl
Innerchr8:137767017..137916834hg18UCSC Ensembl
Innerchr8:137767017..137916834hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38149818
hg19149818
hg18149818
hg17149818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv898n27
Supporting Variantsnssv541605
Samples1782681217_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)nsv465926
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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