A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955051



Internal ID37346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112256051..112256102hg38UCSC Ensembl
chr4:113177207..113177258hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401879
Supporting Variants
Samples
Known GenesAP1AR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002971


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