A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256807



Internal ID22061417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84733517..84733517hg38UCSC Ensembl
chr6:85443235..85443235hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17859497
Samples
Known GenesTBX18
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256807
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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