A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv929n27



Internal ID22767658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:23171517..23186455hg38UCSC Ensembl
chr9:23171516..23186453hg19UCSC Ensembl
chr9:23161516..23176453hg18UCSC Ensembl
chr9:23161516..23176453hg17UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3814939
hg1914938
hg1814938
hg1714938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466301, nsv466300
Samples1782681169_A, HGDP00019
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)dgv929n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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