A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010281



Internal ID22071912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90543405..90614685hg38UCSC Ensembl
Outerchr12:90534819..90619178hg38UCSC Ensembl
Innerchr12:90937182..91008462hg19UCSC Ensembl
Outerchr12:90928596..91012955hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3884360
hg1984360
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154849
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010281
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer