A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694452



Internal ID118118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94324446..94324497hg38UCSC Ensembl
chr13:94976700..94976751hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419105
Supporting Variants
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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