A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715632



Internal ID139298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81955345..81955396hg38UCSC Ensembl
chr17:79913221..79913272hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420426
Supporting Variants
Samples
Known GenesNOTUM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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