A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531328



Internal ID307290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19045667..19046281hg38UCSC Ensembl
chr19:19156476..19157090hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722072
Samples
Known GenesARMC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531328
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