A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7154n54



Internal ID20140578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158204..165159384hg38UCSC Ensembl
chr2:166014714..166015894hg19UCSC Ensembl
chr2:165722960..165724140hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381181
hg191181
hg181181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583579, nsv583568, nsv583575, nsv583573, nsv583566, nsv583574, nsv583567, nsv583565
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7154n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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