A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5866500



Internal ID22641435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113232131..113234280hg38UCSC Ensembl
chr12:113669936..113672085hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17450336
Samples
Known GenesTPCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5866500
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