A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406748



Internal ID186085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70767580..70767631hg38UCSC Ensembl
chr6:71477283..71477334hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983728
Samples
Known GenesSMAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406748
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