A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv545n54



Internal ID22768440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143544453..143905676hg38UCSC Ensembl
chr1:149039120..149400252hg19UCSC Ensembl
chr1:147305744..147666876hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38361224
hg19361133
hg18361133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547717, nsv547753, nsv547752, nsv547751, nsv547732, nsv547798, nsv547716
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)dgv545n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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