A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4017356



Internal ID22078987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197310196..197581417hg38UCSC Ensembl
Outerchr3:197306737..197585554hg38UCSC Ensembl
Innerchr3:197037067..197308288hg19UCSC Ensembl
Outerchr3:197033608..197312425hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38278818
hg19278818
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156072
Supporting Variants
Samples
Known GenesBDH1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4017356
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