A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958729



Internal ID22733791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168565885..168565885hg38UCSC Ensembl
chr5:167992890..167992890hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420120
Samples
Known GenesPANK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958729
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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