A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459258



Internal ID15519323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38744120..38785200hg38UCSC Ensembl
Innerchr21:40116044..40157124hg19UCSC Ensembl
Innerchr21:39037914..39078994hg18UCSC Ensembl
Innerchr21:39037914..39078994hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3841081
hg1941081
hg1841081
hg1741081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv534n27
Supporting Variantsnssv536053
SamplesHGDP00197
Known GenesLINC00114
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)nsv459258
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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