A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524n27



Internal ID22767253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18682124..18710901hg38UCSC Ensembl
chr21:20054442..20083219hg19UCSC Ensembl
chr21:18976313..19005090hg18UCSC Ensembl
chr21:18976313..19005090hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3828778
hg1928778
hg1828778
hg1728778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459111, nsv459113, nsv459110, nsv459114
SamplesHGDP00856, HGDP00873, HGDP01074, HGDP00641
Known Genes
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)dgv524n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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