A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv540n27



Internal ID22767269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16551808..16813361hg38UCSC Ensembl
chr22:17032698..17294251hg19UCSC Ensembl
chr22:15412698..15674251hg18UCSC Ensembl
chr22:15407252..15668805hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38261554
hg19261554
hg18261554
hg17261554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459320, nsv459325, nsv459321, nsv459324, nsv459323, nsv459322
SamplesNINDS_39, NINDS_35, 1780862579_A, NINDS_65, HGDP00587, NINDS_66
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
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)dgv540n27
Frequency
Sample Size1557
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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