A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459273



Internal ID15172652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42257721..42304243hg38UCSC Ensembl
Innerchr21:43677831..43724353hg19UCSC Ensembl
Innerchr21:42550900..42597422hg18UCSC Ensembl
Innerchr21:42550900..42597422hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3846523
hg1946523
hg1846523
hg1746523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536059
SamplesHGDP00187
Known GenesABCG1
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)nsv459273
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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