A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv90n27



Internal ID20132348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46287904..46332377hg38UCSC Ensembl
chr10:47659140..47703613hg19UCSC Ensembl
chr10:47129146..47173619hg18UCSC Ensembl
chr10:47129146..47173619hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3844474
hg1944474
hg1844474
hg1744474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467188, nsv467187
SamplesHGDP01401, HGDP01384
Known GenesANTXRL
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)dgv90n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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