A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851629



Internal ID22035272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55140803..55140803hg38UCSC Ensembl
chr2:55367939..55367939hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252432
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851629
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