A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256795



Internal ID22061405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83052051..83052051hg38UCSC Ensembl
chr6:83761770..83761770hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17859024
Samples
Known GenesUBE3D
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256795
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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