A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465459



Internal ID15525524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:9371253..9385047hg38UCSC Ensembl
Innerchr8:9228763..9242557hg19UCSC Ensembl
Innerchr8:9266173..9279967hg18UCSC Ensembl
Innerchr8:9266173..9279967hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3813795
hg1913795
hg1813795
hg1713795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541254
SamplesHGDP00783
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)nsv465459
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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