A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv577n27



Internal ID18991587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25244661..25598046hg38UCSC Ensembl
chr22:25640628..25994013hg19UCSC Ensembl
chr22:23970628..24324013hg18UCSC Ensembl
chr22:23965182..24318567hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38353386
hg19353386
hg18353386
hg17353386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459792, nsv459742, nsv459704
SamplesHGDP01257, HGDP01255, HGDP00698
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)dgv577n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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