A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509596



Internal ID286245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68410795..68414378hg38UCSC Ensembl
chr12:68804575..68808158hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383584
hg193584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688821
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509596
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