A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690627



Internal ID114293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106518907..106519133hg38UCSC Ensembl
chr12:106912685..106912911hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495627
Supporting Variants
Samples
Known GenesLOC100287944
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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