A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998199



Internal ID66344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66920577..66920628hg38UCSC Ensembl
chr7:66385564..66385615hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406334
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998199
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