A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502765



Internal ID279619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122006201..122009163hg38UCSC Ensembl
chr12:122444107..122447069hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685056
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502765
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