A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055227



Internal ID104655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41757077..41757128hg38UCSC Ensembl
chr12:42150879..42150930hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415376
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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