A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960675



Internal ID41091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184124374..184124425hg38UCSC Ensembl
chr4:185045527..185045578hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412029
Supporting Variants
Samples
Known GenesENPP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960675
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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