A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854453



Internal ID22038096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126202770..126202770hg38UCSC Ensembl
chr3:125921613..125921613hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254645
Supporting Variants
Samples
Known GenesALDH1L1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854453
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