A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945039



Internal ID30689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6579543..6579551hg38UCSC Ensembl
chr4:6581270..6581278hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536726
Supporting Variants
Samples
Known GenesMAN2B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945039
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006556


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