A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548269



Internal ID322040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53676348..53676374hg38UCSC Ensembl
chr12:54070132..54070158hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058708
Samples
Known GenesATP5G2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548269
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