A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459281



Internal ID15172660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419273hg38UCSC Ensembl
Innerchr21:44823479..44839153hg19UCSC Ensembl
Innerchr21:43647907..43663581hg18UCSC Ensembl
Innerchr21:43647907..43663581hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815675
hg1915675
hg1815675
hg1715675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n27
Supporting Variantsnssv536067
SamplesHGDP00610
Known GenesSIK1
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)nsv459281
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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