A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829464



Internal ID22604399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226070768..226077033hg38UCSC Ensembl
chr1:226258469..226264734hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg386266
hg196266
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17450370
Samples
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829464
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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