A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10519n54



Internal ID22778414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32501123..32658151hg38UCSC Ensembl
chr6:32468900..32625928hg19UCSC Ensembl
chr6:32576878..32733906hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38157029
hg19157029
hg18157029
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602334, nsv602342
Samples
Known GenesHLA-DQA1, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10519n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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