A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458848



Internal ID15518913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:874038..894725hg38UCSC Ensembl
Innerchr20:854681..875368hg19UCSC Ensembl
Innerchr20:802681..823368hg18UCSC Ensembl
Innerchr20:802681..823368hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3820688
hg1920688
hg1820688
hg1720688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535728
SamplesNINDS_64
Known GenesANGPT4
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)nsv458848
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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