A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852453



Internal ID22036096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59949229..59949229hg38UCSC Ensembl
chr2:60176364..60176364hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252487
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852453
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