A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245985



Internal ID22050595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52329110..52329110hg38UCSC Ensembl
chr8:53241670..53241670hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839475
Samples
Known GenesST18
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245985
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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