A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv362n54



Internal ID18992538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89011229..89012749hg38UCSC Ensembl
chr1:89476912..89478432hg19UCSC Ensembl
chr1:89249500..89251020hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381521
hg191521
hg181521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546790, nsv546788, nsv546791
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv362n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss137
Observed Complex0
Frequencyn/a


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