A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544576



Internal ID318706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73897370..73897370hg38UCSC Ensembl
chr11:73608415..73608415hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047153
Samples
Known GenesPAAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544576
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