A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3017n54



Internal ID20136441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132149020..132150681hg38UCSC Ensembl
chr12:132633565..132635226hg19UCSC Ensembl
chr12:131199518..131201179hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381662
hg191662
hg181662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560955, nsv560963, nsv560954, nsv560956, nsv560961, nsv560962
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3017n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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