A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458983



Internal ID15519048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44216489..44229136hg38UCSC Ensembl
Innerchr20:42845129..42857776hg19UCSC Ensembl
Innerchr20:42278543..42291190hg18UCSC Ensembl
Innerchr20:42278543..42291190hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812648
hg1912648
hg1812648
hg1712648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535831
SamplesNINDS_45
Known GenesOSER1-AS1
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)nsv458983
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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