A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155740



Internal ID22086245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40590817..40594932hg38UCSC Ensembl
Outerchr21:40590546..40608166hg38UCSC Ensembl
Innerchr21:41962744..41966859hg19UCSC Ensembl
Outerchr21:41962473..41980093hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3817621
hg1917621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4014876
Samples
Known GenesDSCAM
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155740
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