A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv940n27



Internal ID20133198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69485135..69504046hg38UCSC Ensembl
chr9:72100051..72118962hg19UCSC Ensembl
chr9:71289871..71308782hg18UCSC Ensembl
chr9:69329605..69348516hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3818912
hg1918912
hg1818912
hg1718912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466401, nsv466408, nsv466414, nsv466405, nsv466403, nsv466410, nsv466409, nsv466400, nsv466411
SamplesHGDP00815, HGDP01294, 1780862043_A, HGDP00125, HGDP00167, HGDP00688, HGDP00571, HGDP00727, HGDP00460
Known GenesAPBA1
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)dgv940n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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