A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4447n100



Internal ID22790534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46616138..46654452hg38UCSC Ensembl
chr21:48036050..48074364hg19UCSC Ensembl
chr21:46860478..46898792hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3838315
hg1938315
hg1838315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060932, nsv1064083
Samples
Known GenesPRMT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4447n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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