A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv447n100



Internal ID20152063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161506699..161700539hg38UCSC Ensembl
chr1:161476489..161670329hg19UCSC Ensembl
chr1:159743113..159936953hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38193841
hg19193841
hg18193841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005425, nsv1007723, nsv1004462, nsv1000379, nsv1005455, nsv1002020, nsv1002157, nsv998428, nsv1013109, nsv1005277, nsv1011951, nsv1001205, nsv1005821, nsv1014053, nsv1014024, nsv1013498
Samples
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7, RPL31P11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv447n100
Frequency
Sample Size29084
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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