A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545375



Internal ID319423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79485313..79485350hg38UCSC Ensembl
chr5:78781136..78781173hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967002
Samples
Known GenesHOMER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545375
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