A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv380n100



Internal ID20151996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143541845..144572337hg38UCSC Ensembl
chr1:149036512..149521828hg19UCSC Ensembl
chr1:147303136..147788452hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381030493
hg19485317
hg18485317
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011891, nsv1014445, nsv1001373, nsv1011362, nsv1010894
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv380n100
Frequency
Sample Size29084
Observed Gain90
Observed Loss122
Observed Complex0
Frequencyn/a


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