A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459312



Internal ID15172691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46436193..46565742hg38UCSC Ensembl
Innerchr21:47856106..47985655hg19UCSC Ensembl
Innerchr21:46680534..46810083hg18UCSC Ensembl
Innerchr21:46680534..46810083hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38129550
hg19129550
hg18129550
hg17129550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536086
SamplesHGDP01156
Known GenesDIP2A, DIP2A-IT1, PCNT
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)nsv459312
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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