A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239478



Internal ID22044088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96053611..96053611hg38UCSC Ensembl
chr7:95682923..95682923hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838395
Samples
Known GenesDYNC1I1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239478
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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