A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252197



Internal ID22056807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48284260..48284260hg38UCSC Ensembl
chr22:48680072..48680072hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850779
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252197
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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