A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242339



Internal ID22046949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41526799..41526799hg38UCSC Ensembl
chr18:39106763..39106763hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849324
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242339
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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