A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963015



Internal ID22737951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132713193..132713193hg38UCSC Ensembl
chr8:133725439..133725439hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439614
Samples
Known GenesTMEM71
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963015
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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