A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245780



Internal ID22050390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26813003..26813003hg38UCSC Ensembl
chr8:26670520..26670520hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840556
Samples
Known GenesADRA1A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245780
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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