A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv945n27



Internal ID22767674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114048610..114104774hg38UCSC Ensembl
chr9:116810890..116867054hg19UCSC Ensembl
chr9:115850711..115906875hg18UCSC Ensembl
chr9:113890444..113946608hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3856165
hg1956165
hg1856165
hg1756165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466524, nsv466516, nsv466525, nsv466515, nsv466514, nsv466519, nsv466521, nsv466523, nsv466522, nsv466520, nsv466518
SamplesHGDP00604, HGDP00578, HGDP00734, HGDP00559, HGDP00582, HGDP00567, HGDP00561, HGDP00606, HGDP00584, HGDP00573, HGDP00572
Known GenesAMBP, KIF12, ZNF618
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)dgv945n27
Frequency
Sample Size1557
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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