A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16294864



Internal ID20504082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123476147..123476147hg38UCSC Ensembl
chr12:123960694..123960694hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4766583
Supporting Variants
Samples
Known GenesRILPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16294864
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