A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv450n100



Internal ID20152066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161532055..161668399hg38UCSC Ensembl
chr1:161501845..161638189hg19UCSC Ensembl
chr1:159768469..159904813hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38136345
hg19136345
hg18136345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009815, nsv1004423, nsv1011277, nsv1001211, nsv1003125, nsv1005604, nsv1001018, nsv999723, nsv1008903
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)dgv450n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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