A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908575



Internal ID6506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99849753..99849753hg38UCSC Ensembl
chr1:100315309..100315309hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545008
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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