A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv370n27



Internal ID22767099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51417214..51477734hg38UCSC Ensembl
chr17:49494575..49555095hg19UCSC Ensembl
chr17:46849574..46910094hg18UCSC Ensembl
chr17:46849574..46910094hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3860521
hg1960521
hg1860521
hg1760521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457826, nsv457827
Samples1780862301_A, 1780862584_A
Known Genes
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)dgv370n27
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