A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465766



Internal ID15525831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:112946977..113013476hg38UCSC Ensembl
Innerchr8:113959206..114025705hg19UCSC Ensembl
Innerchr8:114028382..114094881hg18UCSC Ensembl
Innerchr8:114028382..114094881hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3866500
hg1966500
hg1866500
hg1766500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541511
SamplesHGDP01337
Known GenesCSMD3
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)nsv465766
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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