A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714994



Internal ID138660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80315769..80315769hg38UCSC Ensembl
chr17:78289569..78289569hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548102
Supporting Variants
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.999842


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