A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898865



Internal ID19
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17948..83994hg38UCSC Ensembl
chr2:17948..83994hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3866047
hg1966047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434332
Supporting Variants
Samples
Known GenesFAM110C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898865
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