A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252155



Internal ID22056765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41149749..41149749hg38UCSC Ensembl
chr22:41545753..41545753hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849135
Samples
Known GenesEP300
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252155
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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