A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv378n100



Internal ID22786465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143541845..143927875hg38UCSC Ensembl
chr1:149036512..149422447hg19UCSC Ensembl
chr1:147303136..147689071hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38386031
hg19385936
hg18385936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998284, nsv1011772, nsv1003509
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)dgv378n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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