A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16269787



Internal ID20479005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53819440..53819440hg38UCSC Ensembl
chr19:54322694..54322694hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4761958
Supporting Variants
Samples
Known GenesNLRP12
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16269787
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