A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243894



Internal ID22048504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:28444828..28444828hg38UCSC Ensembl
chr4:28446450..28446450hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853655
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243894
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