A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402235



Internal ID181606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125592816..125592867hg38UCSC Ensembl
chr6:125913962..125914013hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969316
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402235
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