A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3018n54



Internal ID20136442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132149020..132151257hg38UCSC Ensembl
chr12:132633565..132635802hg19UCSC Ensembl
chr12:131199518..131201755hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382238
hg192238
hg182238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560957, nsv560958
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3018n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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