A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400469



Internal ID179850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49850504..49850555hg38UCSC Ensembl
chr6:49818217..49818268hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981795
Samples
Known GenesCRISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400469
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