A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv545n27



Internal ID20132803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21960091..22225408hg38UCSC Ensembl
chr22:22314463..22579801hg19UCSC Ensembl
chr22:20644463..20909801hg18UCSC Ensembl
chr22:20639017..20904355hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38265318
hg19265339
hg18265339
hg17265339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459415, nsv459408, nsv459406, nsv459409, nsv459416, nsv459422, nsv459404, nsv459405
SamplesNINDS_247, 1780854100_A, HGDP01211, HGDP00954, NINDS_202, HGDP01396, 1780862529_A, 1780854430_A
Known GenesTOP3B
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)dgv545n27
Frequency
Sample Size1557
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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