A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv449n100



Internal ID22786536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161527110..161682500hg38UCSC Ensembl
chr1:161496900..161652290hg19UCSC Ensembl
chr1:159763524..159918914hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38155391
hg19155391
hg18155391
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000353, nsv998753, nsv997331, nsv1010555, nsv1007080, nsv1001335, nsv1005955, nsv999946, nsv1011944, nsv1007578, nsv1009245, nsv1008806, nsv1009316, nsv1000058, nsv1011914
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv449n100
Frequency
Sample Size11257
Observed Gain164
Observed Loss37
Observed Complex0
Frequencyn/a


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