A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553104



Internal ID326384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8605162..8605595hg38UCSC Ensembl
chr4:8606889..8607322hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945084
Samples
Known GenesCPZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553104
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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