A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948162



Internal ID32806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13048300..13048351hg38UCSC Ensembl
chr4:13049924..13049975hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555508
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948162
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