A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010219



Internal ID22071850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71105261..71116475hg38UCSC Ensembl
Outerchr12:71097725..71127747hg38UCSC Ensembl
Innerchr12:71499041..71510255hg19UCSC Ensembl
Outerchr12:71491505..71521527hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3830023
hg1930023
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154842
Supporting Variants
Samples
Known GenesTSPAN8
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010219
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