A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851325



Internal ID22034968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26340947..26340947hg38UCSC Ensembl
chr22:26736913..26736913hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252032
Supporting Variants
Samples
Known GenesSEZ6L
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851325
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