A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846215



Internal ID22029858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127761710..127761710hg38UCSC Ensembl
chr12:128246255..128246255hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248700
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846215
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer