A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508874



Internal ID285551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53055914..53055967hg38UCSC Ensembl
chr12:53449698..53449751hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058626
Samples
Known GenesTENC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508874
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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