A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243842



Internal ID22048452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21980791..21980791hg38UCSC Ensembl
chr4:21982414..21982414hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855382
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243842
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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