A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683945



Internal ID107611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57291065..57291187hg38UCSC Ensembl
chr12:57684848..57684970hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512489
Supporting Variants
Samples
Known GenesR3HDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004839


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