A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856956



Internal ID22040599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33019244..33019244hg38UCSC Ensembl
chr5:33019350..33019350hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256193
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856956
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