A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245825



Internal ID22050435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32030859..32030859hg38UCSC Ensembl
chr8:31888375..31888375hg19UCSC Ensembl
Cytoband8p12
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 Variantsnssv17839165
Samples
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245825
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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