A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143108



Internal ID342309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50192001..50192075hg38UCSC Ensembl
chr12:50585784..50585858hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056462
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143108
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