A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690379



Internal ID114045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101759567..101759569hg38UCSC Ensembl
chr12:102153345..102153347hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549293
Supporting Variants
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690379
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