A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407926



Internal ID187256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49101690..49101741hg38UCSC Ensembl
chr7:49141286..49141337hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995345
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407926
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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