A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459277



Internal ID15172656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42752792..42768002hg38UCSC Ensembl
Innerchr21:44172902..44188112hg19UCSC Ensembl
Innerchr21:43045971..43061181hg18UCSC Ensembl
Innerchr21:43045971..43061181hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815211
hg1915211
hg1815211
hg1715211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536063
SamplesHGDP00521
Known GenesPDE9A
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)nsv459277
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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