A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv543n54



Internal ID20133967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143905676hg38UCSC Ensembl
chr1:149029447..149400252hg19UCSC Ensembl
chr1:147296071..147666876hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38367058
hg19370806
hg18370806
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547718, nsv547699, nsv547719
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)dgv543n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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