A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465463



Internal ID15525528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:10678316..10710120hg38UCSC Ensembl
Innerchr8:10535826..10567630hg19UCSC Ensembl
Innerchr8:10573236..10605040hg18UCSC Ensembl
Innerchr8:10573236..10605040hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3831805
hg1931805
hg1831805
hg1731805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv865n27
Supporting Variantsnssv541257
SamplesHGDP00515
Known GenesC8orf74
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)nsv465463
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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