A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv536n54



Internal ID20133960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143949533hg38UCSC Ensembl
chr1:149005557..149444104hg19UCSC Ensembl
chr1:147272181..147710728hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38410915
hg19438548
hg18438548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547700, nsv547687, nsv547698, nsv547720
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv536n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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