A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n54



Internal ID22767903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:925754..943937hg38UCSC Ensembl
chr1:861134..879317hg19UCSC Ensembl
chr1:850997..869180hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3818184
hg1918184
hg1818184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv544901, nsv544907
Samples
Known GenesSAMD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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