A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407626



Internal ID186957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24565359..24565402hg38UCSC Ensembl
chr6:24565587..24565630hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980795
Samples
Known GenesKIAA0319
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407626
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