A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16278134



Internal ID20487352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12108017..12108017hg38UCSC Ensembl
chr6:12108250..12108250hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4763527
Supporting Variants
Samples
Known GenesHIVEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16278134
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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