A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054328



Internal ID104050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15646162..15646213hg38UCSC Ensembl
chr12:15799096..15799147hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433176
Supporting Variants
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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