A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916352



Internal ID11615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100735250..100735292hg38UCSC Ensembl
chr2:101351712..101351754hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534887
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916352
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