A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710570



Internal ID134236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88746102..88896171hg38UCSC Ensembl
chr16:88812510..88962579hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38150070
hg19150070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516784
Supporting Variants
Samples
Known GenesAPRT, CBFA2T3, CDT1, GALNS, PABPN1L, PIEZO1, TRAPPC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710570
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002342


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