A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4007997



Internal ID22069628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11320628..11359557hg38UCSC Ensembl
Outerchr12:11314521..11359597hg38UCSC Ensembl
Innerchr12:11473562..11512491hg19UCSC Ensembl
Outerchr12:11467455..11512531hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3845077
hg1945077
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154810
Supporting Variants
Samples
Known GenesPRB1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4007997
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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