A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv83n54



Internal ID22767978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6962639..6963232hg38UCSC Ensembl
chr1:7022699..7023292hg19UCSC Ensembl
chr1:6945286..6945879hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545285, nsv545278, nsv545279, nsv545284
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv83n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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