A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254656



Internal ID22059266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128013345..128013345hg38UCSC Ensembl
chr3:127732188..127732188hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854464
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254656
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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