A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv361n54



Internal ID18992537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89011229..89012655hg38UCSC Ensembl
chr1:89476912..89478338hg19UCSC Ensembl
chr1:89249500..89250926hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381427
hg191427
hg181427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546787, nsv546789
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv361n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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