A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458838



Internal ID15172217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:349198..372441hg38UCSC Ensembl
Innerchr20:329842..353085hg19UCSC Ensembl
Innerchr20:277842..301085hg18UCSC Ensembl
Innerchr20:277842..301085hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3823244
hg1923244
hg1823244
hg1723244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535720
Samples1780854479_A
Known GenesNRSN2
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)nsv458838
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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