A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042668



Internal ID96149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26674191..26674242hg38UCSC Ensembl
chr11:26695738..26695789hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406628
Supporting Variants
Samples
Known GenesSLC5A12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012176


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