A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465745



Internal ID15179124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98049764..98103973hg38UCSC Ensembl
Innerchr8:99061992..99116201hg19UCSC Ensembl
Innerchr8:99131168..99185377hg18UCSC Ensembl
Innerchr8:99131168..99185377hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3854210
hg1954210
hg1854210
hg1754210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541493
SamplesHGDP01047
Known GenesC8orf47, HRSP12
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)nsv465745
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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