A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690422



Internal ID114088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102524445..102524496hg38UCSC Ensembl
chr12:102918223..102918274hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559222
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690422
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