A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6066470



Internal ID21975703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40771044..40771044hg38UCSC Ensembl
chr5:40771146..40771146hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382564
hg192564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17549449
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6066470
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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