A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv268n54



Internal ID20133692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51989444..51990298hg38UCSC Ensembl
chr1:52455116..52455970hg19UCSC Ensembl
chr1:52227704..52228558hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546216, nsv546206, nsv546221
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv268n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss6
Observed Complex0
Frequencyn/a


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