A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7839n54



Internal ID20141263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41474022..41475776hg38UCSC Ensembl
chr21:42845949..42847703hg19UCSC Ensembl
chr21:41767819..41769573hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381755
hg191755
hg181755
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587512, nsv587515, nsv587513, nsv587524, nsv587516, nsv587514, nsv587520, nsv587519
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7839n54
Frequency
Sample Size17421
Observed Gain117
Observed Loss49
Observed Complex0
Frequencyn/a


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