A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684389



Internal ID108055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109859650..109859691hg38UCSC Ensembl
chr12:110297455..110297496hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536681
Supporting Variants
Samples
Known GenesGLTP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684389
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003746


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