A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847264



Internal ID22030907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56943869..56943869hg38UCSC Ensembl
chr16:56977781..56977781hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250316
Supporting Variants
Samples
Known GenesHERPUD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847264
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