A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954112



Internal ID36735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118939754..118939805hg38UCSC Ensembl
chr4:119860909..119860960hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399826
Supporting Variants
Samples
Known GenesSYNPO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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