A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv930n27



Internal ID22767659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:25562456..25599997hg38UCSC Ensembl
chr9:25562454..25599995hg19UCSC Ensembl
chr9:25552454..25589995hg18UCSC Ensembl
chr9:25552454..25589995hg17UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3837542
hg1937542
hg1837542
hg1737542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466316, nsv466319, nsv466318
SamplesHGDP00267, NINDS_213, NINDS_156
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)dgv930n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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