A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv802n54



Internal ID20134226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211578158..211579405hg38UCSC Ensembl
chr1:211751500..211752747hg19UCSC Ensembl
chr1:209818123..209819370hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381248
hg191248
hg181248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549131, nsv549128
Samples
Known GenesSLC30A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv802n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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