A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv548n27



Internal ID18991558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22046608..22769368hg38UCSC Ensembl
chr22:22401006..23111861hg19UCSC Ensembl
chr22:20731006..21441861hg18UCSC Ensembl
chr22:20725560..21436415hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38722761
hg19710856
hg18710856
hg17710856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459447, nsv459449, nsv459435, nsv459443
SamplesHGDP00775, HGDP00723, HGDP00903, HGDP01062
Known GenesBMS1P20, GGTLC2, LOC648691, POM121L1P, PRAME, VPREB1, 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)dgv548n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer