A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv551n27



Internal ID22767280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22326954..22913698hg38UCSC Ensembl
chr22:22681312..23255869hg19UCSC Ensembl
chr22:21011312..21585869hg18UCSC Ensembl
chr22:21005866..21580423hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38586745
hg19574558
hg18574558
hg17574558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459461, nsv459525, nsv459465, nsv459471, nsv459477, nsv459532, nsv459501, nsv459510, nsv459508, nsv459472, nsv459533, nsv459459, nsv459512, nsv459467, nsv459505, nsv459509, nsv459484, nsv459535, nsv459516, nsv459468, nsv459462, nsv459537, nsv459464, nsv459458, nsv459483, nsv459534, nsv459497, nsv459460, nsv459536, nsv459481, nsv459506, nsv459482
SamplesHGDP00262, HGDP00267, 1780862547_A, 1780854522_A, HGDP00772, HGDP00604, NINDS_91, HGDP01238, HGDP00693, HGDP00476, 1798860443_A, HGDP01260, HGDP01203, 1780854339_A, NINDS_90, HGDP01021, HGDP00522, NINDS_106, HGDP00460, HGDP00407, HGDP00546, 1798860280_A, 1780862127_A, HGDP00542, HGDP00600, HGDP01226, HGDP00777, HGDP00606, HGDP00517, 1780862165_A, HGDP00527, HGDP00914
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
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)dgv551n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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