A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv539n54



Internal ID20133963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143724450hg38UCSC Ensembl
chr1:149029447..149219101hg19UCSC Ensembl
chr1:147296071..147485725hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38185832
hg19189655
hg18189655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547693, nsv547692, nsv547694, nsv547691, nsv547757, nsv547712, nsv547690, nsv547756, nsv547760, nsv547746
SamplesHGDP00772, HGDP00881, HGDP01242, HGDP00607, HGDP01096, HGDP00720, HGDP00045
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv539n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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