A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv448n100



Internal ID22786535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161527110..161668711hg38UCSC Ensembl
chr1:161496900..161638501hg19UCSC Ensembl
chr1:159763524..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38141602
hg19141602
hg18141602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003048, nsv1012357, nsv1007882, nsv1000695, nsv997618, nsv1001586, nsv1002044, nsv997443, nsv997850, nsv1013029, nsv1008868, nsv1001036, nsv1013066, nsv1004441, nsv997670, nsv1013229, nsv1008031, nsv1005156, nsv1002256
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)dgv448n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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