A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv540n54



Internal ID20133964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143751464hg38UCSC Ensembl
chr1:149029447..149246114hg19UCSC Ensembl
chr1:147296071..147512738hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38212846
hg19216668
hg18216668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547747, nsv547695, nsv547726, nsv547748, nsv547793, nsv547774, nsv547773, nsv547749, nsv547777, nsv547783, nsv547763, nsv547758, nsv547764, nsv547727
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv540n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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