A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv668n27



Internal ID20132926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143973107..144114635hg38UCSC Ensembl
chr4:144894260..145035788hg19UCSC Ensembl
chr4:145113710..145255238hg18UCSC Ensembl
chr4:145251865..145393393hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38141529
hg19141529
hg18141529
hg17141529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461666, nsv461667
SamplesHGDP00167, HGDP00031
Known GenesGYPA, GYPB
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)dgv668n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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