A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429942



Internal ID208773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45894850..45894901hg38UCSC Ensembl
chr12:46288633..46288684hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058154
Samples
Known GenesARID2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429942
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