A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938593



Internal ID26458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113839574..113855574hg38UCSC Ensembl
chr3:113558421..113574421hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440804
Supporting Variants
Samples
Known GenesGRAMD1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938593
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