A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv381n100



Internal ID19010749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143541845..144609984hg38UCSC Ensembl
chr1:149036512..149617476hg19UCSC Ensembl
chr1:147303136..147884100hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381068140
hg19580965
hg18580965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007460, nsv1006301
Samples
Known GenesFCGR1C, LINC00623, LINC00869, LOC101929780, LOC388692, NBPF23, PPIAL4A, PPIAL4B, PPIAL4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv381n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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