A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733035



Internal ID156701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53269028..53269079hg38UCSC Ensembl
chr20:51885567..51885618hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420751
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer