A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690605



Internal ID114271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106158227..106158227hg38UCSC Ensembl
chr12:106552005..106552005hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428866
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690605
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016139


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